A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892330



Internal ID18836464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:36864962..37227904hg38UCSC Ensembl
Outerchr13:36864962..37227904hg38UCSC Ensembl
Innerchr13:37439099..37802041hg19UCSC Ensembl
Outerchr13:37439099..37802041hg19UCSC Ensembl
Innerchr13:36337099..36700041hg18UCSC Ensembl
Outerchr13:36337099..36700041hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38362943
hg19362943
hg18362943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789578
Samples
Known GenesALG5, CSNK1A1L, EXOSC8, SMAD9, SUPT20H
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892330
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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