A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10491055



Internal ID4586501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47397362..47400699hg38UCSC Ensembl
Innerchr2:47397412..47400649hg38UCSC Ensembl
Outerchr2:47397312..47400749hg38UCSC Ensembl
chr2:47624501..47627838hg19UCSC Ensembl
Innerchr2:47624551..47627788hg19UCSC Ensembl
Outerchr2:47624451..47627888hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383338
hg193338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590628
Supporting Variants
SamplesHG04098
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10491055
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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