A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954353



Internal ID9712030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21958510..22958367hg38UCSC Ensembl
Outerchr19:22141312..23141169hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38999858
hg19999858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718352, esv2718349, esv2718337
Supporting Variants
SamplesSSM025
Known GenesLOC100996349, LOC440518, ZNF208, ZNF257, ZNF492, ZNF676, ZNF729, ZNF98, ZNF99
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)essv6954353
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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