A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696692



Internal ID9763245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21939986..22939996hg38UCSC Ensembl
Outerchr19:22122788..23122798hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381000011
hg191000011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718349, esv2718337
Supporting Variants
SamplesSSM037
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)essv6696692
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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