A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900617



Internal ID10294147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7790076..7893317hg38UCSC Ensembl
Outerchr12:7942672..8045913hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38103242
hg19103242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745493
Supporting Variants
SamplesSSM100
Known GenesNANOG, SLC2A14
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6900617
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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