A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10710266



Internal ID6675744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:150430677..150434980hg38UCSC Ensembl
Innerchr2:150430677..150434980hg38UCSC Ensembl
Outerchr2:150430616..150435040hg38UCSC Ensembl
chr2:151287191..151291494hg19UCSC Ensembl
Innerchr2:151287191..151291494hg19UCSC Ensembl
Outerchr2:151287130..151291554hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg384304
hg194304
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592888
Supporting Variants
SamplesNA20811
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10710266
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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