A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567576



Internal ID7038958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235010800..235010868hg38UCSC Ensembl
chr2:235919444..235919512hg19UCSC Ensembl
chr2:235584183..235584251hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993755
Supporting Variants
SamplesHuRef
Known GenesSH3BP4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567576
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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