A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851129



Internal ID9902812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10421021..10436540hg38UCSC Ensembl
Outerchr12:10573620..10589139hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815520
hg1915520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745535
Supporting Variants
SamplesSSM086
Known GenesKLRC2
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)essv6851129
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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