A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599430



Internal ID6986477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3444970..3450219hg38UCSC Ensembl
chr4:3446697..3451946hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg385250
hg195250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11317592, essv11317638, essv11317629, essv11317650, essv11317557, essv11317663, essv11317639, essv11317615, essv11317588, essv11317559, essv11317649, essv11317549, essv11317662, essv11317659, essv11317593, essv11317597, essv11317533, essv11317627, essv11317544, essv11317626, essv11317630, essv11317640, essv11317635, essv11317548, essv11317632, essv11317637, essv11317605, essv11317572, essv11317534, essv11317546, essv11317581, essv11317645, essv11317585, essv11317595, essv11317573, essv11317569, essv11317664, essv11317580, essv11317535, essv11317558, essv11317537, essv11317582, essv11317611, essv11317624, essv11317547, essv11317644, essv11317621, essv11317594, essv11317634, essv11317556, essv11317552, essv11317604, essv11317586, essv11317613, essv11317602, essv11317648, essv11317625, essv11317589, essv11317656, essv11317636, essv11317620, essv11317532, essv11317606, essv11317658, essv11317541, essv11317543, essv11317529, essv11317619, essv11317641, essv11317623, essv11317616, essv11317584, essv11317655, essv11317545, essv11317601, essv11317646, essv11317551, essv11317607, essv11317631, essv11317528, essv11317647, essv11317571, essv11317578, essv11317610, essv11317587, essv11317531, essv11317538, essv11317652, essv11317612, essv11317618, essv11317598, essv11317575, essv11317657, essv11317554, essv11317560, essv11317555, essv11317530, essv11317553, essv11317653, essv11317643, essv11317599, essv11317566, essv11317651, essv11317567, essv11317590, essv11317591, essv11317603, essv11317542, essv11317609, essv11317576, essv11317562, essv11317568, essv11317622, essv11317600, essv11317563, essv11317660, essv11317628, essv11317574, essv11317579, essv11317661, essv11317565, essv11317583, essv11317564, essv11317550, essv11317561, essv11317642, essv11317654, essv11317596, essv11317633, essv11317614, essv11317539, essv11317577, essv11317536, essv11317570, essv11317540, essv11317617, essv11317608
SamplesNA18998, HG00881, NA20339, HG00442, HG00536, NA19794, NA19909, HG02002, HG01624, NA18647, NA19914, NA19332, NA18565, NA19704, NA19734, HG00457, NA18641, HG02061, NA18639, HG00699, HG00452, NA19057, NA12058, HG00341, NA19920, HG00097, HG02285, NA12399, HG00337, NA12812, HG01702, HG00448, NA18567, NA19916, HG00458, HG00330, HG02130, NA18574, HG00851, HG00346, NA21108, HG00451, HG02278, HG02131, NA19923, NA19041, HG00335, HG02003, NA21109, NA18868, NA18560, NA18748, HG00422, NA21107, HG00406, NA18985, HG01626, HG00530, HG00419, NA21106, NA19007, HG00543, HG00443, HG00982, NA19707, NA19070, NA19056, HG02233, HG01104, HG00428, NA19347, HG01879, HG00475, HG02731, HG01880, HG01029, NA21116, NA18757, HG01073, NA20867, HG00651, NA19000, HG00956, HG00844, HG00690, HG00531, HG00479, NA21112, NA19001, NA06989, NA19059, HG02081, HG01334, HG00246, HG00445, NA18541, HG00376, HG01700, HG00128, HG00407, HG00382, HG00476, NA21117, HG00383, NA18535, NA19735, NA19712, HG00353, HG01915, HG01958, NA20351, HG01623, HG00473, NA18643, HG02139, HG01861, HG01086, HG00478, HG00446, HG00381, HG02147, HG01028, HG00421, HG00378, HG02053, HG01085, NA18873, HG02013, NA11843, HG01105, NA18983, HG00472, HG00345, HG01923, HG00437, HG02060, HG01618
Known GenesHGFAC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599430
Frequency
Sample Size2504
Observed Gain137
Observed Loss0
Observed Complex0
Frequencyn/a


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