A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752160



Internal ID12639026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56257098..57259482hg38UCSC Ensembl
Innerchr7:56324791..57327189hg19UCSC Ensembl
Innerchr7:56292285..57331131hg18UCSC Ensembl
Innerchr7:56099000..57137846hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg381002385
hg191002399
hg181038847
hg171038847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984583, essv6984582, essv6987628, essv6984584, essv6984581
SamplesBEC_720
Known GenesDKFZp434L192, GUSBP10, LOC100130849, LOC100240728, LOC101928401, LOC650226, MIR4283-1, MIR4283-2, ZNF479
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)esv2752160
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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