A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714189



Internal ID9948473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30748966..30749248hg38UCSC Ensembl
Outerchr16:30760287..30760569hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784081, essv6852011
SamplesSSM086, SSM068
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)esv2714189
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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