A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983070



Internal ID12628089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24611262..24717762hg38UCSC Ensembl
Innerchr13:25185400..25291900hg19UCSC Ensembl
Innerchr13:24083400..24189900hg18UCSC Ensembl
Innerchr13:24083400..24189900hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38106501
hg19106501
hg18106501
hg17106501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751140
Supporting Variants
SamplesBEC_539
Known GenesATP12A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983070
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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