A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584991



Internal ID6972515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1236159..1244349hg38UCSC Ensembl
chr1:1171539..1179729hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388191
hg198191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9840575, essv9840597, essv9840586, essv9840554, essv9840590, essv9840572, essv9840601, essv9840546, essv9840544, essv9840573, essv9840545, essv9840585, essv9840588, essv9840587, essv9840605, essv9840603, essv9840541, essv9840553, essv9840593, essv9840594, essv9840578, essv9840561, essv9840563, essv9840583, essv9840562, essv9840598, essv9840547, essv9840566, essv9840576, essv9840549, essv9840589, essv9840570, essv9840559, essv9840557, essv9840542, essv9840548, essv9840580, essv9840564, essv9840579, essv9840569, essv9840552, essv9840571, essv9840600, essv9840602, essv9840560, essv9840581, essv9840568, essv9840584, essv9840592, essv9840599, essv9840555, essv9840574, essv9840567, essv9840550, essv9840604, essv9840551, essv9840577, essv9840543, essv9840591, essv9840595, essv9840556, essv9840565, essv9840558, essv9840582, essv9840596
SamplesHG00881, HG00442, HG00536, HG01348, NA19914, HG01860, HG00457, HG00452, NA12058, HG00341, NA19920, HG01702, HG00448, NA18982, NA18567, NA19916, NA19062, NA07048, HG00851, HG00346, HG00451, HG02278, HG01046, HG00422, HG00406, NA18985, HG00419, HG00443, HG00982, HG01104, HG00428, HG00475, HG01880, HG01029, NA19000, HG00956, HG00844, HG00479, NA06989, NA19059, HG01625, HG00445, HG00376, HG01896, HG01700, HG00382, HG00476, HG00383, NA19712, HG00353, HG01915, HG00473, HG01086, HG02147, HG01028, NA19060, HG00421, HG00378, HG01085, NA11843, HG01105, NA18983, HG00345, HG01923, HG00437
Known GenesFAM132A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3584991
Frequency
Sample Size2504
Observed Gain65
Observed Loss0
Observed Complex0
Frequencyn/a


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