A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983181



Internal ID12974940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:92903841..92989357hg38UCSC Ensembl
Innerchr7:92533155..92618671hg19UCSC Ensembl
Innerchr7:92371091..92456607hg18UCSC Ensembl
Innerchr7:92177806..92263322hg17UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3885517
hg1985517
hg1885517
hg1785517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752192
Supporting Variants
SamplesBEC_550
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983181
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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