A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987628



Internal ID12630540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56359352..57259482hg38UCSC Ensembl
Innerchr7:56427045..57327189hg19UCSC Ensembl
Innerchr7:56394539..57331131hg18UCSC Ensembl
Innerchr7:56201254..57137846hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38900131
hg19900145
hg18936593
hg17936593
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987628
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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