A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980358



Internal ID12978247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19423337..19494237hg38UCSC Ensembl
Innerchr7:19462960..19533860hg19UCSC Ensembl
Innerchr7:19429485..19500385hg18UCSC Ensembl
Innerchr7:19236200..19307100hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3870901
hg1970901
hg1870901
hg1770901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34500
Supporting Variants
SamplesNA07345
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980358
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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