A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639442



Internal ID6679535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84797470..84899017hg38UCSC Ensembl
Innerchr16:84797620..84898867hg38UCSC Ensembl
Outerchr16:84797320..84899167hg38UCSC Ensembl
chr16:84831076..84932623hg19UCSC Ensembl
Innerchr16:84831226..84932473hg19UCSC Ensembl
Outerchr16:84830926..84932773hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38101548
hg19101548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15547065, essv15547063, essv15547064, essv15547062
SamplesHG01850, HG02702, HG02058, NA19917
Known GenesCRISPLD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639442
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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