A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793840



Internal ID10200674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:19180192..19180324hg38UCSC Ensembl
Outerchr3:19221684..19221816hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724996, esv2724997
Supporting Variants
SamplesSSM071
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)essv6793840
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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