A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667220



Internal ID9933325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:142943679..142947185hg38UCSC Ensembl
Outerchr6:142943308..142947555hg38UCSC Ensembl
Innerchr6:143264816..143268322hg19UCSC Ensembl
Outerchr6:143264445..143268692hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1158e199
Supporting Variantsessv6190072, essv6462113, essv6562675, essv6038953, essv5679259, essv6189223, essv5915498, essv6262615, essv5838464, essv6459627, essv6494316, essv5578603, essv6330712, essv6135795, essv6311904, essv5454024, essv6595587, essv5860918, essv5527964, essv6589363, essv6553250, essv6596620, essv5478951, essv5597872
SamplesHG01441, HG01356, HG01389, HG01374, HG01465, HG01140, HG01350, HG01366, HG01351, HG01354, HG01365, HG01134, HG01440, HG01353, HG01136, HG01384, HG01498, HG01390, HG01383, HG01148, HG01357, HG01375, HG01489, HG01491
Known GenesHIVEP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667220
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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