A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764006



Internal ID9823541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:22040758..22253554hg38UCSC Ensembl
Outerchr19:22223560..22436356hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38212797
hg19212797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718352, esv2718353, esv2718342, esv2718349, esv2718337, esv2718351
Supporting Variants
SamplesSSM062
Known GenesZNF257, 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)essv6764006
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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