A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10491049



Internal ID1928430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47248581..47249076hg38UCSC Ensembl
Innerchr2:47248583..47249074hg38UCSC Ensembl
Outerchr2:47248579..47249078hg38UCSC Ensembl
chr2:47475720..47476215hg19UCSC Ensembl
Innerchr2:47475722..47476213hg19UCSC Ensembl
Outerchr2:47475718..47476217hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590625
Supporting Variants
SamplesHG01799
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10491049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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