A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662083



Internal ID9581502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83774898..83775468hg38UCSC Ensembl
Outerchr16:83774864..83775503hg38UCSC Ensembl
Innerchr16:83808503..83809073hg19UCSC Ensembl
Outerchr16:83808469..83809108hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv511e199
Supporting Variantsessv6286048, essv5855060, essv5980722, essv6351471
SamplesNA19005, NA18944, NA18572, NA18576
Known GenesCDH13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662083
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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