A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857261



Internal ID10255019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:77982261..77982390hg38UCSC Ensembl
Outerchr12:78376041..78376170hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746098, esv2746096
Supporting Variants
SamplesSSM087
Known GenesNAV3
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)essv6857261
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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