A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10299767



Internal ID5221010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221434817..221436134hg38UCSC Ensembl
Innerchr1:221434817..221436134hg38UCSC Ensembl
Outerchr1:221434572..221436395hg38UCSC Ensembl
chr1:221608159..221609476hg19UCSC Ensembl
Innerchr1:221608159..221609476hg19UCSC Ensembl
Outerchr1:221607914..221609737hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381318
hg191318
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588922
Supporting Variants
SamplesNA18622
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10299767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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