A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617293



Internal ID7004179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56136073..56185853hg38UCSC Ensembl
chr8:57048632..57098412hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3849781
hg1949781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13204436, essv13204426, essv13204427, essv13204432, essv13204424, essv13204435, essv13204423, essv13204431, essv13204434, essv13204433, essv13204430, essv13204429, essv13204428, essv13204425
SamplesHG01485, HG01779, HG01064, HG00243, NA12156, HG01405, HG01048, HG01550, HG01187, HG00732, NA20758, NA20503, HG01431, HG01112
Known GenesPLAG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617293
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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