A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783954



Internal ID18831318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113761834..113866786hg38UCSC Ensembl
Innerchr3:113480681..113585633hg19UCSC Ensembl
Innerchr3:114963371..115068323hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38104953
hg19104953
hg18104953
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893765
Supporting Variants
Samples
Known GenesATP6V1A, GRAMD1C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783954
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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