A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593452



Internal ID6980776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176726637..176727082hg38UCSC Ensembl
Innerchr2:176726637..176727082hg38UCSC Ensembl
Outerchr2:176726334..176727496hg38UCSC Ensembl
chr2:177591365..177591810hg19UCSC Ensembl
Innerchr2:177591365..177591810hg19UCSC Ensembl
Outerchr2:177591062..177592224hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10770163, essv10770151, essv10770182, essv10770169, essv10770160, essv10770171, essv10770180, essv10770174, essv10770170, essv10770173, essv10770165, essv10770168, essv10770161, essv10770157, essv10770167, essv10770183, essv10770156, essv10770172, essv10770176, essv10770158, essv10770159, essv10770181, essv10770162, essv10770153, essv10770154, essv10770155, essv10770166, essv10770178, essv10770175, essv10770164, essv10770177, essv10770179, essv10770152
SamplesNA20529, HG01303, HG03767, HG00315, NA12045, HG00150, HG03235, HG00122, NA20798, HG01177, HG01488, HG04206, HG01710, HG00369, HG01242, NA11930, HG00335, HG01048, HG00137, HG03900, HG02728, HG00239, NA12829, HG01383, HG03634, HG01474, HG01697, HG00376, HG01939, HG00308, HG03729, HG00381, NA20511
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593452
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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