A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659321



Internal ID9578740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140807351..140821938hg38UCSC Ensembl
Innerchr5:140186936..140201523hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3814588
hg1914588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5660114
SamplesNA12878
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659321
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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