A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847858



Internal ID10246553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:19180101..19180400hg38UCSC Ensembl
Outerchr3:19221593..19221892hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724996
Supporting Variants
SamplesSSM086
Known GenesKCNH8
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)essv6847858
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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