A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6187652



Internal ID9165055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:68767314..68771097hg38UCSC Ensembl
Outerchr16:68767277..68771147hg38UCSC Ensembl
Innerchr16:68801217..68805000hg19UCSC Ensembl
Outerchr16:68801180..68805050hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383871
hg193871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661913
Supporting Variants
SamplesHG00125
Known GenesCDH1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6187652
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