A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591801



Internal ID6979129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103238038..103242169hg38UCSC Ensembl
Innerchr2:103238042..103242166hg38UCSC Ensembl
Outerchr2:103238035..103242173hg38UCSC Ensembl
chr2:103854496..103858627hg19UCSC Ensembl
Innerchr2:103854500..103858624hg19UCSC Ensembl
Outerchr2:103854493..103858631hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg384132
hg194132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598380, essv10598382, essv10598381
SamplesNA20903, HG03802, NA20852
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591801
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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