A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752049



Internal ID12985601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5160661..5432422hg38UCSC Ensembl
Innerchr4:5162388..5434149hg19UCSC Ensembl
Innerchr4:5213289..5485050hg18UCSC Ensembl
Innerchr4:5280460..5552221hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38271762
hg19271762
hg18271762
hg17271762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990158, essv6989506, essv6985861, essv6985860, essv6985862
SamplesSPC_7
Known GenesSTK32B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752049
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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