A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747299



Internal ID9981583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41131549..41193448hg38UCSC Ensembl
Outerchr13:41705685..41767584hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3861900
hg1961900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876781, essv6945104, essv6741203, essv6673382, essv6702597, essv6936300
SamplesSSM092, SSM031, SSM039, SSM021, SSM023, SSM052
Known GenesKBTBD6, KBTBD7
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)esv2747299
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer