A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752169



Internal ID12985721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65097016..65603737hg38UCSC Ensembl
Innerchr7:64557394..65068650hg19UCSC Ensembl
Innerchr7:64194829..64706085hg18UCSC Ensembl
Innerchr7:64001544..64512800hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38506722
hg19511257
hg18511257
hg17511257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv228e55
Supporting Variantsessv6987644, essv6984671, essv6984670, essv6987643, essv6988834
SamplesSPC_163
Known GenesZNF92
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)esv2752169
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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