A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6886842



Internal ID9666806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150306679..150307240hg38UCSC Ensembl
Outerchr5:149686242..149686803hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730914
Supporting Variants
SamplesSSM012
Known Genes
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)essv6886842
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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