A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611431



Internal ID6651650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160206711..160217058hg38UCSC Ensembl
Innerchr6:160206713..160217057hg38UCSC Ensembl
Outerchr6:160206710..160217060hg38UCSC Ensembl
chr6:160627743..160638090hg19UCSC Ensembl
Innerchr6:160627745..160638089hg19UCSC Ensembl
Outerchr6:160627742..160638092hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3810348
hg1910348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12612072, essv12612079, essv12612080, essv12612076, essv12612061, essv12612066, essv12612064, essv12612065, essv12612069, essv12612063, essv12612062, essv12612077, essv12612081, essv12612070, essv12612067, essv12612071, essv12612075, essv12612078, essv12612068, essv12612074, essv12612073
SamplesNA19030, NA19819, NA19404, HG01277, NA19338, HG01171, NA19096, NA20773, HG01242, NA18923, NA18510, NA19318, HG02339, HG01933, NA19035, NA19391, NA20332, NA19431, NA19041, HG03117, NA19468
Known GenesSLC22A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611431
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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