A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731121



Internal ID10314757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173739539..173740228hg38UCSC Ensembl
Outerchr5:173166542..173167231hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6786255, essv6943224, essv6974554, essv6875583, essv6934563, essv6922925
SamplesSSM023, SSM092, SSM021, SSM018, SSM069, SSM029
Known GenesLOC101928136
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)esv2731121
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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