A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666455



Internal ID9990596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14840878..14852055hg38UCSC Ensembl
Outerchr19:14951690..14962867hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3811178
hg1911178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718220
Supporting Variants
SamplesSSM004
Known GenesOR7A10
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)essv6666455
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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