A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617564



Internal ID7004449
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1404e214
Supporting Variantsessv13219282, essv13219285, essv13219283, essv13219284
SamplesHG03295, HG03109, HG02947, HG02284
Known GenesNCOA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617564
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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