A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736229



Internal ID9970561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:94773932..94774231hg38UCSC Ensembl
Outerchr10:47088392..47088691hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677509, essv6958728, essv6890990, essv6968740, essv6965267, essv6783226, essv6688037, essv6908541, essv6856701, essv6672645, essv6976567, essv6850682, essv6819313, essv6779148, essv6863120, essv6882088, essv6948737, essv6866746, essv6861994, essv6936307, essv6695211
SamplesSSM027, SSM024, SSM011, SSM087, SSM097, SSM088, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM014, SSM086, SSM068, SSM078, SSM037, SSM004
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)esv2736229
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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