A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896470



Internal ID6521763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32808106..32811771hg38UCSC Ensembl
Innerchr1:32808119..32811759hg38UCSC Ensembl
Outerchr1:32808094..32811784hg38UCSC Ensembl
chr1:33273707..33277372hg19UCSC Ensembl
Innerchr1:33273720..33277360hg19UCSC Ensembl
Outerchr1:33273695..33277385hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg383666
hg193666
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585678
Supporting Variants
SamplesHG00132
Known GenesYARS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896470
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