A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950179



Internal ID9707461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21939984..22939985hg38UCSC Ensembl
Outerchr19:22122786..23122787hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381000002
hg191000002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718349, esv2718337
Supporting Variants
SamplesSSM024
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)essv6950179
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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