A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887982



Internal ID10282842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7789995..7893323hg38UCSC Ensembl
Outerchr12:7942591..8045919hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38103329
hg19103329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745493
Supporting Variants
SamplesSSM096
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)essv6887982
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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