A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893765



Internal ID18837899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113761834..113866786hg38UCSC Ensembl
Outerchr3:113761834..113866786hg38UCSC Ensembl
Innerchr3:113480681..113585633hg19UCSC Ensembl
Outerchr3:113480681..113585633hg19UCSC Ensembl
Innerchr3:114963371..115068323hg18UCSC Ensembl
Outerchr3:114963371..115068323hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38104953
hg19104953
hg18104953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783954
Samples
Known GenesATP6V1A, GRAMD1C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893765
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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