A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6815054



Internal ID9658538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54822513..54856714hg38UCSC Ensembl
Outerchr19:55333968..55368169hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3834202
hg1934202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718872, esv2718931
Supporting Variants
SamplesSSM009
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)essv6815054
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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