A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983069



Internal ID12628090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24611237..24667608hg38UCSC Ensembl
Innerchr13:25185375..25241746hg19UCSC Ensembl
Innerchr13:24083375..24139746hg18UCSC Ensembl
Innerchr13:24083375..24139746hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3856372
hg1956372
hg1856372
hg1756372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751140
Supporting Variants
SamplesBEC_539
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983069
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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