A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9938785



Internal ID4788813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57804342..57807399hg38UCSC Ensembl
Innerchr1:57804356..57807386hg38UCSC Ensembl
Outerchr1:57804329..57807413hg38UCSC Ensembl
chr1:58270014..58273071hg19UCSC Ensembl
Innerchr1:58270028..58273058hg19UCSC Ensembl
Outerchr1:58270001..58273085hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg383058
hg193058
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586150
Supporting Variants
SamplesNA11919
Known GenesDAB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9938785
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