A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6744778



Internal ID9805689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54827354..54861149hg38UCSC Ensembl
Outerchr19:55338809..55372604hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3833796
hg1933796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718872, esv2718931
Supporting Variants
SamplesSSM053
Known GenesKIR2DS4, KIR3DL1, KIR3DL2
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)essv6744778
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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