A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852011



Internal ID9903605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30749064..30749139hg38UCSC Ensembl
Outerchr16:30760385..30760460hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714190, esv2714189
Supporting Variants
SamplesSSM086
Known GenesPHKG2
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)essv6852011
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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