A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13333648



Internal ID3335464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:131375690..132136917hg38UCSC Ensembl
Innerchr8:131375840..132136767hg38UCSC Ensembl
Outerchr8:131375540..132137067hg38UCSC Ensembl
chr8:132387937..133149164hg19UCSC Ensembl
Innerchr8:132388087..133149014hg19UCSC Ensembl
Outerchr8:132387787..133149314hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38761228
hg19761228
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618853
Supporting Variants
SamplesNA19921
Known GenesEFR3A, HHLA1, KCNQ3, OC90
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13333648
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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