A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6949908



Internal ID9707704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10462282..10462824hg38UCSC Ensembl
Outerchr18:10462279..10462821hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716786
Supporting Variants
SamplesSSM024
Known GenesAPCDD1
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)essv6949908
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