A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916121



Internal ID9680400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27095617..27610568hg38UCSC Ensembl
Outerchr12:27248550..27763501hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38514952
hg19514952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745664
Supporting Variants
SamplesSSM016
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
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)essv6916121
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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