A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658663



Internal ID9924768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134267478..134273834hg38UCSC Ensembl
Outerchr6:134267107..134274204hg38UCSC Ensembl
Innerchr6:134588616..134594972hg19UCSC Ensembl
Outerchr6:134588245..134595342hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg387098
hg197098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1152e199
Supporting Variantsessv5484728, essv6418653, essv5764166, essv6529656, essv6573077, essv5970927, essv6417669, essv5505786, essv5621330, essv5665553, essv6471958, essv6303643, essv5695840, essv6375523, essv6073478, essv6548645, essv5722892, essv6427493, essv6248970, essv6205542, essv6227579, essv5915205, essv5575437, essv5870763, essv6422568, essv6468795, essv6142093, essv6551838, essv5644256, essv6295220, essv5779716, essv6056623, essv6563070, essv6568494, essv6140889, essv5905189, essv5775911, essv5492842, essv5919047, essv6023501, essv6250249, essv5812716, essv5545728
SamplesHG00626, HG00650, HG00542, HG00442, HG00536, HG00608, HG00654, HG00663, HG00589, HG00702, HG00610, HG00537, HG00590, HG00683, HG00534, HG00419, HG00543, HG00560, HG00629, HG00701, HG00657, HG00556, HG00533, HG00583, HG00500, HG00690, HG00404, HG00531, HG00613, HG00704, HG00476, HG00625, HG00565, HG00662, HG00672, HG00614, HG00513, HG00478, HG00421, HG00656, HG00698, HG00595, HG00593
Known GenesSGK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658663
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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