A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6693976



Internal ID9647604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21973992..21974139hg38UCSC Ensembl
Outerchr19:22156794..22156941hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718335, esv2718352, esv2718353, esv2718342, esv2718349, esv2718337, esv2718351
Supporting Variants
SamplesSSM005
Known GenesZNF208
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)essv6693976
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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