A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741315



Internal ID13643312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130570497..130570624hg38UCSC Ensembl
Innerchr8:130570547..130570574hg38UCSC Ensembl
Outerchr8:130570447..130570674hg38UCSC Ensembl
chr8:131582743..131582870hg19UCSC Ensembl
Innerchr8:131582793..131582820hg19UCSC Ensembl
Outerchr8:131582693..131582920hg19UCSC Ensembl
chr8:131651925..131652052hg18UCSC Ensembl
Innerchr8:131651975..131652002hg18UCSC Ensembl
Outerchr8:131651875..131652102hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38128
hg19128
hg18128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3377237
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741315
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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