A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643356



Internal ID6683436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:605297..608431hg38UCSC Ensembl
Innerchr19:605447..608281hg38UCSC Ensembl
Outerchr19:605147..608581hg38UCSC Ensembl
chr19:605297..608431hg19UCSC Ensembl
Innerchr19:605447..608281hg19UCSC Ensembl
Outerchr19:605147..608581hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383135
hg193135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15967886, essv15967861, essv15967873, essv15967878, essv15967872, essv15967863, essv15967867, essv15967866, essv15967880, essv15967868, essv15967877, essv15967871, essv15967862, essv15967875, essv15967870, essv15967882, essv15967864, essv15967859, essv15967883, essv15967885, essv15967874, essv15967884, essv15967876, essv15967865, essv15967869, essv15967881, essv15967860, essv15967879
SamplesHG02275, HG02272, NA07037, HG01927, NA20902, HG02146, HG01344, HG03491, HG01848, HG01936, HG03752, HG02003, HG03690, HG01363, NA19735, NA06986, HG02266, HG01933, HG01565, HG02301, NA12272, NA19723, HG01939, HG02252, HG01947, NA19732, HG02089, HG01377
Known GenesHCN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643356
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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