A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605295



Internal ID6992318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65083991..65085463hg38UCSC Ensembl
Innerchr5:65083993..65085462hg38UCSC Ensembl
Outerchr5:65083990..65085465hg38UCSC Ensembl
chr5:64379818..64381290hg19UCSC Ensembl
Innerchr5:64379820..64381289hg19UCSC Ensembl
Outerchr5:64379817..64381292hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11934839, essv11934835, essv11934847, essv11934841, essv11934840, essv11934843, essv11934850, essv11934842, essv11934836, essv11934838, essv11934851, essv11934834, essv11934848, essv11934845, essv11934849, essv11934844, essv11934837, essv11934846
SamplesHG03680, HG03009, HG03235, NA20861, HG02490, NA21129, HG03649, NA21106, HG03697, HG03871, HG03858, HG03631, HG03914, HG02725, HG03833, HG03899, HG03692, NA20906
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605295
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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