A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607742



Internal ID6647981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179299267..179508684hg38UCSC Ensembl
Innerchr5:179299417..179508534hg38UCSC Ensembl
Outerchr5:179299117..179508834hg38UCSC Ensembl
chr5:178726268..178935685hg19UCSC Ensembl
Innerchr5:178726418..178935535hg19UCSC Ensembl
Outerchr5:178726118..178935835hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38209418
hg19209418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150337, essv12150338, essv12150336, essv12150333, essv12150334, essv12150335
SamplesHG00463, NA19068, NA18956, NA19000, HG00478, NA18610
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607742
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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