A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618351



Internal ID7005233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108264461..108267840hg38UCSC Ensembl
Innerchr8:108264498..108267804hg38UCSC Ensembl
Outerchr8:108264425..108267877hg38UCSC Ensembl
chr8:109276690..109280069hg19UCSC Ensembl
Innerchr8:109276727..109280033hg19UCSC Ensembl
Outerchr8:109276654..109280106hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg383380
hg193380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13281022, essv13281023
SamplesHG03436, HG00731
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618351
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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