A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575638



Internal ID7047020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159794237..159795194hg38UCSC Ensembl
chr2:160650748..160651705hg19UCSC Ensembl
chr2:160358994..160359951hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38958
hg19958
hg18958
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001679
Supporting Variants
SamplesHuRef
Known GenesCD302, LY75-CD302
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575638
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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