A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6721748



Internal ID9783269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54827191..54844837hg38UCSC Ensembl
Outerchr19:55338646..55356292hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817647
hg1917647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718913, esv2718872, esv2718920, esv2718931
Supporting Variants
SamplesSSM044
Known GenesKIR2DS4, KIR3DL1
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)essv6721748
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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