A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10811580



Internal ID5419203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194964187..194966152hg38UCSC Ensembl
Innerchr2:194964187..194966152hg38UCSC Ensembl
Outerchr2:194963984..194966364hg38UCSC Ensembl
chr2:195828911..195830876hg19UCSC Ensembl
Innerchr2:195828911..195830876hg19UCSC Ensembl
Outerchr2:195828708..195831088hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg381966
hg191966
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593850
Supporting Variants
SamplesNA18950
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10811580
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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