A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789578



Internal ID19175574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:36864962..37227904hg38UCSC Ensembl
Innerchr13:37439099..37802041hg19UCSC Ensembl
Innerchr13:36337099..36700041hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38362943
hg19362943
hg18362943
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892330
Supporting Variants
Samples
Known GenesALG5, CSNK1A1L, EXOSC8, SMAD9, SUPT20H
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=57
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789578
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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