A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9889287



Internal ID3828938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22212742..22303754hg38UCSC Ensembl
Innerchr1:22212783..22303713hg38UCSC Ensembl
Outerchr1:22212701..22303795hg38UCSC Ensembl
chr1:22539235..22630247hg19UCSC Ensembl
Innerchr1:22539276..22630206hg19UCSC Ensembl
Outerchr1:22539194..22630288hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3891013
hg1991013
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585465
Supporting Variants
SamplesHG03469
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9889287
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