A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617237



Internal ID7004123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53319792..53336759hg38UCSC Ensembl
Innerchr8:53319792..53336759hg38UCSC Ensembl
Outerchr8:53319292..53337259hg38UCSC Ensembl
chr8:54232352..54249319hg19UCSC Ensembl
Innerchr8:54232352..54249319hg19UCSC Ensembl
Outerchr8:54231852..54249819hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3816968
hg1916968
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13203167
SamplesHG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617237
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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