A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10886513



Internal ID3835763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237038172..237039756hg38UCSC Ensembl
Innerchr2:237038183..237039745hg38UCSC Ensembl
Outerchr2:237038161..237039767hg38UCSC Ensembl
chr2:237946815..237948399hg19UCSC Ensembl
Innerchr2:237946826..237948388hg19UCSC Ensembl
Outerchr2:237946804..237948410hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381585
hg191585
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594738
Supporting Variants
SamplesHG03472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10886513
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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