A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608218



Internal ID6995148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17695998..17698776hg38UCSC Ensembl
Innerchr6:17696048..17698726hg38UCSC Ensembl
Outerchr6:17695940..17698834hg38UCSC Ensembl
chr6:17696229..17699007hg19UCSC Ensembl
Innerchr6:17696279..17698957hg19UCSC Ensembl
Outerchr6:17696171..17699065hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382779
hg192779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12204434, essv12204450, essv12204432, essv12204437, essv12204433, essv12204441, essv12204452, essv12204443, essv12204440, essv12204438, essv12204446, essv12204436, essv12204447, essv12204451, essv12204435, essv12204444, essv12204449, essv12204445, essv12204442, essv12204439, essv12204448
SamplesNA20899, HG03754, HG03873, HG02603, HG02493, HG04047, HG03697, HG03775, NA21118, HG03829, NA20867, HG03866, HG04216, NA20887, HG02700, NA20868, NA21102, HG03863, HG03684, HG03856, HG01583
Known GenesNUP153
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608218
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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