A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780015



Internal ID9838808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:71950823..72151945hg38UCSC Ensembl
Outerchr16:71984722..72185844hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38201123
hg19201123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714683
Supporting Variants
SamplesSSM067
Known GenesDHODH, DHX38, HP, HPR, PKD1L3, PMFBP1, TXNL4B
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)essv6780015
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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