A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792600



Internal ID18834904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22674660..24411768hg38UCSC Ensembl
Innerchr13:23248799..24985906hg19UCSC Ensembl
Innerchr13:22146799..23883906hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381737109
hg191737108
hg181737108
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892311
Supporting Variants
Samples
Known GenesANKRD20A19P, BASP1P1, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=617
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792600
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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