A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319721



Internal ID6321537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36485278..36490433hg38UCSC Ensembl
chr21:37857576..37862731hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg385156
hg195156
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646973
Supporting Variants
SamplesHG01085
Known GenesCLDN14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319721
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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