A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626819



Internal ID7013649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73709173..73715946hg38UCSC Ensembl
Innerchr11:73709223..73715896hg38UCSC Ensembl
Outerchr11:73709072..73716047hg38UCSC Ensembl
chr11:73420218..73426991hg19UCSC Ensembl
Innerchr11:73420268..73426941hg19UCSC Ensembl
Outerchr11:73420117..73427092hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg386774
hg196774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14212367, essv14212371, essv14212372, essv14212369, essv14212363, essv14212364, essv14212373, essv14212368, essv14212370, essv14212366, essv14212365
SamplesHG02386, HG00766, NA19917, HG02134, NA18637, HG02064, HG00580, NA19083, HG02392, HG01799, HG01807
Known GenesRAB6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626819
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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