A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800878



Internal ID9855455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87733648..87733773hg38UCSC Ensembl
Outerchr16:87767254..87767379hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714935
Supporting Variants
SamplesSSM072
Known GenesKLHDC4
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)essv6800878
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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