A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9879629



Internal ID5756659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20080651..20084260hg38UCSC Ensembl
Innerchr1:20080701..20084206hg38UCSC Ensembl
Outerchr1:20080521..20084390hg38UCSC Ensembl
chr1:20407144..20410753hg19UCSC Ensembl
Innerchr1:20407194..20410699hg19UCSC Ensembl
Outerchr1:20407014..20410883hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg383610
hg193610
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585413
Supporting Variants
SamplesNA19129
Known GenesPLA2G5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9879629
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