A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751140



Internal ID12638006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24611237..24717762hg38UCSC Ensembl
Innerchr13:25185375..25291900hg19UCSC Ensembl
Innerchr13:24083375..24189900hg18UCSC Ensembl
Innerchr13:24083375..24189900hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38106526
hg19106526
hg18106526
hg17106526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983070, essv6983069, essv6986345
SamplesBEC_539
Known GenesATP12A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751140
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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