A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6837188



Internal ID9890452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6600575..6600716hg38UCSC Ensembl
Outerchr5:6600688..6600829hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729691, esv2729690
Supporting Variants
SamplesSSM083
Known GenesNSUN2
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)essv6837188
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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