A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812936



Internal ID9866561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19934077..19934345hg38UCSC Ensembl
Outerchr19:20044886..20045154hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718300, esv2718298, esv2718296, esv2718297
Supporting Variants
SamplesSSM076
Known GenesZNF93
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)essv6812936
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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