A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590413



Internal ID6977742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38081021..38086303hg38UCSC Ensembl
Innerchr2:38081071..38086253hg38UCSC Ensembl
Outerchr2:38080897..38086427hg38UCSC Ensembl
chr2:38308163..38313445hg19UCSC Ensembl
Innerchr2:38308213..38313395hg19UCSC Ensembl
Outerchr2:38308039..38313569hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg385283
hg195283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10468194, essv10468186, essv10468191, essv10468184, essv10468192, essv10468190, essv10468185, essv10468193, essv10468189, essv10468195, essv10468196, essv10468187, essv10468188
SamplesHG00351, HG00318, NA19068, HG00173, HG00335, NA19317, HG00178, NA19000, HG00373, HG00357, NA19331, HG00342, HG00186
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590413
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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