A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748400



Internal ID9982684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113830484..113830982hg38UCSC Ensembl
Outerchr13:114533457..114533955hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv257e201
Supporting Variantsessv6806558, essv6717050, essv6800479, essv6867470, essv6842694, essv6728563, essv6851599, essv6966199, essv6912849, essv6688473, essv6977680, essv6792104, essv6695818, essv6713214, essv6953493, essv6888186, essv6949343, essv6796280, essv6888187, essv6779689, essv6835104
SamplesSSM071, SSM027, SSM024, SSM046, SSM074, SSM042, SSM084, SSM029, SSM096, SSM089, SSM035, SSM067, SSM086, SSM072, SSM082, SSM015, SSM037, SSM070, SSM025, SSM043
Known GenesGAS6, GAS6-AS1
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)esv2748400
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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