A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696069



Internal ID9761372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6772954..6773226hg38UCSC Ensembl
Outerchr16:6822955..6823227hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750455, esv2750460
Supporting Variants
SamplesSSM037
Known GenesRBFOX1
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)essv6696069
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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