A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15542557



Internal ID5544373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82662874..82667635hg38UCSC Ensembl
Innerchr16:82662874..82667635hg38UCSC Ensembl
Outerchr16:82662784..82667832hg38UCSC Ensembl
chr16:82696479..82701240hg19UCSC Ensembl
Innerchr16:82696479..82701240hg19UCSC Ensembl
Outerchr16:82696389..82701437hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg384762
hg194762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639369
Supporting Variants
SamplesHG03687
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15542557
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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