A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600479



Internal ID6987522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49487572..49510116hg38UCSC Ensembl
chr4:49489589..49512133hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3822545
hg1922545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv999e214
Supporting Variantsessv11430607, essv11430570, essv11430581, essv11430612, essv11430565, essv11430557, essv11430572, essv11430562, essv11430575, essv11430624, essv11430627, essv11430587, essv11430569, essv11430567, essv11430630, essv11430554, essv11430595, essv11430558, essv11430620, essv11430629, essv11430571, essv11430598, essv11430611, essv11430583, essv11430597, essv11430606, essv11430582, essv11430560, essv11430551, essv11430616, essv11430617, essv11430602, essv11430603, essv11430613, essv11430596, essv11430576, essv11430555, essv11430584, essv11430574, essv11430626, essv11430586, essv11430600, essv11430579, essv11430563, essv11430591, essv11430599, essv11430547, essv11430556, essv11430601, essv11430553, essv11430618, essv11430608, essv11430593, essv11430561, essv11430564, essv11430585, essv11430588, essv11430573, essv11430549, essv11430594, essv11430622, essv11430605, essv11430619, essv11430568, essv11430552, essv11430604, essv11430610, essv11430589, essv11430614, essv11430623, essv11430578, essv11430621, essv11430625, essv11430580, essv11430615, essv11430577, essv11430592, essv11430609, essv11430550, essv11430566, essv11430628, essv11430559, essv11430590, essv11430631, essv11430548
SamplesNA19394, HG01986, HG02658, HG01402, HG03484, HG02481, HG03163, NA19332, HG02150, HG02852, HG02870, HG02804, NA19190, NA19314, NA12399, HG03199, HG03133, HG03464, HG01350, NA18489, HG03452, HG03808, HG02325, HG04206, HG03736, HG03342, HG03224, HG02505, HG03520, HG02703, HG01398, HG03045, HG02885, HG01849, NA20355, HG03058, HG03649, HG02882, HG02477, HG03784, HG02819, NA19437, HG03088, HG02678, HG03547, HG03928, HG04019, HG03027, HG02470, HG01889, HG03311, HG03824, HG03136, HG02577, NA19031, HG02568, HG02772, HG03028, HG04134, NA19321, NA19108, NA19147, HG02759, HG03875, HG03539, HG03117, HG02923, HG02651, HG03433, NA19324, NA19310, HG02814, HG03108, HG03157, HG01556, HG02053, NA19713, HG03063, HG03258, HG03410, HG01914, HG02353, HG02861, HG02629, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600479
Frequency
Sample Size2504
Observed Gain85
Observed Loss0
Observed Complex0
Frequencyn/a


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