A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588795



Internal ID6976211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214831164..214837118hg38UCSC Ensembl
Innerchr1:214831164..214837118hg38UCSC Ensembl
Outerchr1:214830963..214837312hg38UCSC Ensembl
chr1:215004507..215010461hg19UCSC Ensembl
Innerchr1:215004507..215010461hg19UCSC Ensembl
Outerchr1:215004306..215010655hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385955
hg195955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10291924, essv10291923, essv10291922
SamplesNA18979, NA18546, HG02028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588795
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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