A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792334



Internal ID9848131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6290029..6290392hg38UCSC Ensembl
Outerchr16:6340030..6340393hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750456, esv2750455
Supporting Variants
SamplesSSM070
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)essv6792334
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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