A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618247



Internal ID7005130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103119847..103123352hg38UCSC Ensembl
chr8:104132075..104135580hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg383506
hg193506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13271434, essv13271437, essv13271435, essv13271430, essv13271431, essv13271433, essv13271432, essv13271436, essv13271438
SamplesNA19703, HG02922, HG03189, HG02571, HG02332, HG02455, NA19331, NA20351, HG03304
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618247
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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