A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6814009



Internal ID10005011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12294087..12440467hg38UCSC Ensembl
Outerchr19:12404902..12551281hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38146381
hg19146380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718192
Supporting Variants
SamplesSSM009
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)essv6814009
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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