A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6908385



Internal ID9985424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7798586..7905598hg38UCSC Ensembl
Outerchr12:7951182..8058194hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38107013
hg19107013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745493
Supporting Variants
SamplesSSM002
Known GenesSLC2A14
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)essv6908385
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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