A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6709753



Internal ID10121126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:82825760..82825911hg38UCSC Ensembl
Outerchr14:83292104..83292255hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748944, esv2748943
Supporting Variants
SamplesSSM041
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)essv6709753
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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