A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433896



Internal ID435712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26398041..26425725hg38UCSC Ensembl
Innerchr2:26398066..26425701hg38UCSC Ensembl
Outerchr2:26398017..26425750hg38UCSC Ensembl
chr2:26620909..26648593hg19UCSC Ensembl
Innerchr2:26620934..26648569hg19UCSC Ensembl
Outerchr2:26620885..26648618hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3827685
hg1927685
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590122
Supporting Variants
SamplesNA19080
Known GenesDRC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433896
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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