A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6717621



Internal ID9648456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54830940..54848726hg38UCSC Ensembl
Outerchr19:55342395..55360181hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817787
hg1917787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718872, esv2718920, esv2718931
Supporting Variants
SamplesSSM006
Known GenesKIR2DS4
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)essv6717621
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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