A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6713178



Internal ID9778947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99669853..100007229hg38UCSC Ensembl
Outerchr13:100322107..100659483hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38337377
hg19337377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747875
Supporting Variants
SamplesSSM042
Known GenesCLYBL, LINC00554, ZIC2, ZIC5
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)essv6713178
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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