A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983699



Internal ID12975796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24529482..24651969hg38UCSC Ensembl
Innerchr13:25103620..25226107hg19UCSC Ensembl
Innerchr13:24001620..24124107hg18UCSC Ensembl
Innerchr13:24001620..24124107hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38122488
hg19122488
hg18122488
hg17122488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751139
Supporting Variants
SamplesBEC_614
Known GenesTPTE2P6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983699
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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