A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909357



Internal ID9671430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31515518..31810136hg38UCSC Ensembl
Outerchr16:31526839..31821457hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38294619
hg19294619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714195
Supporting Variants
SamplesSSM014
Known GenesAHSP, CLUHP3, YBX3P1, ZNF720
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)essv6909357
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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