A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6763990



Internal ID10170212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12294083..12440478hg38UCSC Ensembl
Outerchr19:12404898..12551292hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38146396
hg19146395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718192
Supporting Variants
SamplesSSM062
Known GenesZNF44, ZNF442, ZNF443, ZNF563, ZNF799
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)essv6763990
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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