A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6803469



Internal ID9859326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1754837..1755239hg38UCSC Ensembl
Outerchr12:1864003..1864405hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745395
Supporting Variants
SamplesSSM073
Known GenesADIPOR2
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)essv6803469
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer