A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933026



Internal ID9694558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54738657..54739188hg38UCSC Ensembl
Outerchr19:55250122..55250634hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38532
hg19513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718914, esv2718872, esv2718912, esv2718915, esv2718911, esv2718913
Supporting Variants
SamplesSSM020
Known GenesKIR2DL3
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)essv6933026
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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