A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743674



Internal ID9977958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10482528..10489200hg38UCSC Ensembl
Outerchr1:10542585..10549257hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg386673
hg196673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756545
SamplesSSM059
Known GenesPEX14
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)esv2743674
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