A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603819



Internal ID6990850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1681698..1682734hg38UCSC Ensembl
Innerchr5:1681748..1682684hg38UCSC Ensembl
Outerchr5:1681608..1682824hg38UCSC Ensembl
chr5:1681813..1682849hg19UCSC Ensembl
Innerchr5:1681863..1682799hg19UCSC Ensembl
Outerchr5:1681723..1682939hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381037
hg191037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11784549, essv11784548, essv11784546, essv11784543, essv11784544, essv11784547, essv11784545
SamplesNA20882, NA19397, HG04211, NA20900, HG03696, NA19818, HG04014
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603819
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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