A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747718



Internal ID10328688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:80704947..80706723hg38UCSC Ensembl
Outerchr13:81279082..81280858hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381777
hg191777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876812, essv6901021
SamplesSSM092, SSM012
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)esv2747718
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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