A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6914619



Internal ID9638107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21518987..22063971hg38UCSC Ensembl
Outerchr19:21701789..22246773hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38544985
hg19544985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718335
Supporting Variants
SamplesSSM002
Known GenesLOC641367, ZNF100, ZNF208, ZNF257, ZNF429, ZNF43
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)essv6914619
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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