A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606921



Internal ID6647163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138400313..138409694hg38UCSC Ensembl
chr5:137736002..137745383hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg389382
hg199382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1140e214
Supporting Variantsessv12075813, essv12075811, essv12075810, essv12075812, essv12075809, essv12075808, essv12075816, essv12075815, essv12075818, essv12075814, essv12075817
SamplesNA12399, HG00139, HG00188, NA20314, HG00320, HG01613, HG01474, NA12778, HG00342, HG00131, HG00274
Known GenesKDM3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606921
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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