A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804212



Internal ID9858583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21934271..22934160hg38UCSC Ensembl
Outerchr19:22117073..23116962hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38999890
hg19999890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718342, esv2718349, esv2718337
Supporting Variants
SamplesSSM073
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)essv6804212
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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