A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6665468



Internal ID9730484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:16003238..16003402hg38UCSC Ensembl
Outerchr16:16097095..16097259hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714023, esv2714015, esv2714022
Supporting Variants
SamplesSSM029
Known GenesABCC1
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)essv6665468
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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