A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591257



Internal ID6978585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73275826..73276903hg38UCSC Ensembl
Innerchr2:73275829..73276900hg38UCSC Ensembl
Outerchr2:73275823..73276906hg38UCSC Ensembl
chr2:73502954..73504031hg19UCSC Ensembl
Innerchr2:73502957..73504028hg19UCSC Ensembl
Outerchr2:73502951..73504034hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg381078
hg191078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10540394, essv10540400, essv10540396, essv10540407, essv10540410, essv10540393, essv10540403, essv10540409, essv10540392, essv10540404, essv10540387, essv10540398, essv10540406, essv10540390, essv10540399, essv10540388, essv10540397, essv10540408, essv10540402, essv10540401, essv10540395, essv10540391, essv10540389, essv10540405
SamplesHG03300, HG03558, NA18486, HG02860, NA19904, HG03460, HG03520, NA18868, HG03267, HG02977, HG03160, HG01879, NA19913, HG01311, HG01101, HG03571, HG02256, NA19108, NA18517, HG01915, NA19323, NA19248, NA18873, NA19129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591257
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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