A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678551



Internal ID10093174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80981283..80981418hg38UCSC Ensembl
Outerchr17:78955083..78955218hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716419, esv2716420
Supporting Variants
SamplesSSM032
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)essv6678551
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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