A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13330708



Internal ID6895373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:131039734..131043024hg38UCSC Ensembl
Innerchr8:131039734..131043024hg38UCSC Ensembl
Outerchr8:131039234..131043524hg38UCSC Ensembl
chr8:132051980..132055270hg19UCSC Ensembl
Innerchr8:132051980..132055270hg19UCSC Ensembl
Outerchr8:132051480..132055770hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg383291
hg193291
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618840
Supporting Variants
SamplesNA21107
Known GenesADCY8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13330708
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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