A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13131077



Internal ID3132893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19441521..19444478hg38UCSC Ensembl
Innerchr8:19441521..19444478hg38UCSC Ensembl
Outerchr8:19441344..19444722hg38UCSC Ensembl
chr8:19299032..19301989hg19UCSC Ensembl
Innerchr8:19299032..19301989hg19UCSC Ensembl
Outerchr8:19298855..19302233hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382958
hg192958
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616542
Supporting Variants
SamplesNA19314
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13131077
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