A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792912



Internal ID9849341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21973008..22181111hg38UCSC Ensembl
Outerchr19:22155810..22363913hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38208104
hg19208104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718352, esv2718353, esv2718342, esv2718349, esv2718337, esv2718351
Supporting Variants
SamplesSSM070
Known GenesZNF208, ZNF257, ZNF676
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)essv6792912
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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