A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13219285



Internal ID3221101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70376653..70380722hg38UCSC Ensembl
chr8:71288888..71292957hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg384070
hg194070
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617564
Supporting Variants
SamplesHG03295
Known GenesNCOA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13219285
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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