A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892130



Internal ID19186526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7847740..7905327hg38UCSC Ensembl
Outerchr12:7824755..7923089hg38UCSC Ensembl
Innerchr12:8000336..8057923hg19UCSC Ensembl
Outerchr12:7977351..8075685hg19UCSC Ensembl
Innerchr12:7891603..7949190hg18UCSC Ensembl
Outerchr12:7868618..7966952hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3898335
hg1998335
hg1898335
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787875, essv25787930, essv25781194
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892130
Frequency
Sample Size3017
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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