A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658731



Internal ID9924836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55620249..55625355hg38UCSC Ensembl
Outerchr4:55619878..55625725hg38UCSC Ensembl
Innerchr4:56486416..56491522hg19UCSC Ensembl
Outerchr4:56486045..56491892hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385848
hg195848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6251686, essv6070833, essv5762859, essv5686104, essv6408478, essv6465386, essv5829391, essv6096519, essv5944694, essv6084960, essv5417950, essv5481498, essv6293633, essv6270487, essv6391086, essv5774059, essv6509605, essv6063271, essv6478715, essv5544392, essv6252146, essv6508276, essv5577841, essv6420209, essv5609542, essv6170034, essv6220366, essv5860792, essv5443346, essv5980506, essv5549831, essv6477859, essv6289981, essv5936972, essv6550445, essv6209108, essv5416527, essv6188288, essv6012151, essv5968079, essv6114380, essv6492221, essv6390093, essv6470860, essv6563268, essv6576280, essv6168387, essv5785518, essv6596055, essv6330264, essv5448491, essv5987474, essv5981420, essv6043828, essv6229131, essv6188691, essv5867234, essv6329568, essv5481179, essv5912272, essv6083103, essv5714734, essv6013664
SamplesHG00650, HG00542, HG00442, HG00536, HG00671, HG00524, HG00699, HG00449, HG00702, HG00689, HG00448, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00543, HG00629, HG00443, HG00557, HG00428, HG00653, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00692, HG00690, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00476, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00672, HG00614, HG00513, HG00478, HG00421, HG00656, HG00698, HG00472, HG00437, HG00581
Known GenesNMU
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658731
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer