A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696761



Internal ID9763170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54826951..54844882hg38UCSC Ensembl
Outerchr19:55338406..55356337hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817932
hg1917932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718913, esv2718872, esv2718920, esv2718931
Supporting Variants
SamplesSSM037
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)essv6696761
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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