A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617545



Internal ID7004430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69221750..69226144hg38UCSC Ensembl
Innerchr8:69221764..69226130hg38UCSC Ensembl
Outerchr8:69221736..69226158hg38UCSC Ensembl
chr8:70133985..70138379hg19UCSC Ensembl
Innerchr8:70133999..70138365hg19UCSC Ensembl
Outerchr8:70133971..70138393hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg384395
hg194395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13219216
SamplesHG02882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617545
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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