A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6801379



Internal ID9856503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54975258..54975669hg38UCSC Ensembl
Outerchr19:55486626..55487037hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718934, esv2718872
Supporting Variants
SamplesSSM072
Known GenesNLRP2
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)essv6801379
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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