A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839359



Internal ID10239094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77674444..77674671hg38UCSC Ensembl
Outerchr17:75670526..75670753hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716286, esv2716287
Supporting Variants
SamplesSSM083
Known Genes
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)essv6839359
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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