A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984581



Internal ID12630531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56257098..57184936hg38UCSC Ensembl
Innerchr7:56324791..57252643hg19UCSC Ensembl
Innerchr7:56292285..57256585hg18UCSC Ensembl
Innerchr7:56099000..57063300hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38927839
hg19927853
hg18964301
hg17964301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752160
Supporting Variants
SamplesBEC_720
Known GenesDKFZp434L192, GUSBP10, LOC100130849, LOC100240728, LOC101928401, LOC650226, MIR4283-1, MIR4283-2, ZNF479
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984581
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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