A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668340



Internal ID9738630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24607712..24632406hg38UCSC Ensembl
Outerchr14:25076918..25101612hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3824695
hg1924695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748495
Supporting Variants
SamplesSSM030
Known GenesGZMB, GZMH
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)essv6668340
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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