A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756317



Internal ID9816460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19917221..20105915hg38UCSC Ensembl
Outerchr19:20028030..20216724hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38188695
hg19188695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718300, esv2718298, esv2718296, esv2718297
Supporting Variants
SamplesSSM058
Known GenesZNF682, ZNF90, ZNF93
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)essv6756317
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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