A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6706625



Internal ID9772757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6656971..6657114hg38UCSC Ensembl
Outerchr16:6706972..6707115hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750459, esv2750455
Supporting Variants
SamplesSSM040
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)essv6706625
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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