A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730808



Internal ID10314444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135744373..135744566hg38UCSC Ensembl
Outerchr5:135080062..135080255hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848866, essv6854982, essv6687117, essv6926718, essv6951717, essv6778024, essv6963447, essv6723078, essv6974491, essv6670891, essv6830029, essv6947654
SamplesSSM027, SSM024, SSM045, SSM087, SSM029, SSM035, SSM003, SSM031, SSM067, SSM086, SSM081, SSM025
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)esv2730808
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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