A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812937



Internal ID9866562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19917200..20105913hg38UCSC Ensembl
Outerchr19:20028009..20216722hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38188714
hg19188714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718300, esv2718298, esv2718296, esv2718297
Supporting Variants
SamplesSSM076
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)essv6812937
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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