A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6774464



Internal ID9653672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21998256..22490526hg38UCSC Ensembl
Outerchr14:22466495..22959514hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38492271
hg19493020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748464
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)essv6774464
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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