A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003696



Internal ID7068801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:181701155..181710926hg38UCSC Ensembl
Outerchr2:182565882..182575653hg19UCSC Ensembl
Outerchr2:182274127..182283898hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg389772
hg199772
hg189772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564933
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003696
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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