A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868350



Internal ID9918311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:989096..989167hg38UCSC Ensembl
Outerchr19:989096..989167hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717815, esv2717817, esv2717816
Supporting Variants
SamplesSSM089
Known GenesWDR18
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)essv6868350
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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