A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564933



Internal ID7036033
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003696
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564933
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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