A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752152



Internal ID12985704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16824103..16906601hg38UCSC Ensembl
Innerchr7:16863727..16946225hg19UCSC Ensembl
Innerchr7:16830252..16912750hg18UCSC Ensembl
Innerchr7:16636967..16719465hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3882499
hg1982499
hg1882499
hg1782499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989499, essv6985764
SamplesSPC_42
Known GenesAGR3
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)esv2752152
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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