A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730860



Internal ID10314496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143700676..143700895hg38UCSC Ensembl
Outerchr5:143080241..143080460hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670897, essv6848878, essv6963458, essv6708284, essv6818011, essv6974501, essv6956738
SamplesSSM027, SSM041, SSM029, SSM026, SSM031, SSM086, SSM078
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)esv2730860
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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