A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6915129



Internal ID9638054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54255264..54278925hg38UCSC Ensembl
Outerchr19:54759127..54782780hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3823662
hg1923654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718860, esv2718812, esv2718863
Supporting Variants
SamplesSSM002
Known GenesLILRB2, LILRB5
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)essv6915129
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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