A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617573



Internal ID7004458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70792673..70862133hg38UCSC Ensembl
chr8:71704908..71774368hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3869461
hg1969461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13219461
SamplesNA19042
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617573
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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