A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6895616



Internal ID9942849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54738742..54739089hg38UCSC Ensembl
Outerchr19:55250207..55250535hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38348
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718913, esv2718912, esv2718911, esv2718914, esv2718915, esv2718872, esv2718916
Supporting Variants
SamplesSSM098
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)essv6895616
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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