A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718932



Internal ID9953224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54847306..54867007hg38UCSC Ensembl
Outerchr19:55358761..55378462hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3819702
hg1919702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666557, essv6807194, essv6843620, essv6786376
SamplesSSM084, SSM001, SSM029, SSM074
Known GenesKIR2DS4, 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)esv2718932
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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