A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665598



Internal ID9585017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:61660241..61663869hg38UCSC Ensembl
chr16:61694145..61697773hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383629
hg193629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5566710, essv6222605, essv6002516
SamplesHG00637, HG00246, HG01375
Known GenesCDH8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665598
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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