A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6774531



Internal ID10000348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:32056340..32056979hg38UCSC Ensembl
Outerchr14:32525546..32526185hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748561
Supporting Variants
SamplesSSM008
Known Genes
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)essv6774531
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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