A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608405



Internal ID6648644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26373483..26380382hg38UCSC Ensembl
Innerchr6:26373483..26380382hg38UCSC Ensembl
Outerchr6:26373367..26380603hg38UCSC Ensembl
chr6:26373711..26380610hg19UCSC Ensembl
Innerchr6:26373711..26380610hg19UCSC Ensembl
Outerchr6:26373595..26380831hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12232833, essv12232832, essv12232834, essv12232830, essv12232831, essv12232835, essv12232829
SamplesHG02164, NA19331, HG02375, NA19474, HG03241, HG02410, HG02127
Known GenesBTN3A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608405
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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