A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv286e214



Internal ID22756180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76101031..76105692hg38UCSC Ensembl
chr12:76494811..76499472hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384662
hg194662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630023, esv3630022
SamplesHG02574, HG02702, HG03175, HG03247, HG03057, NA19819, HG03455, HG01051, HG03485, NA19207, NA19456, HG02882, NA19451, HG02439, HG03054, HG03061, NA19462, HG02896, NA19017, NA19375, NA19321, HG02837, NA20281, HG03419, NA19376, NA19726, HG03538, NA19900, NA19030, HG02861, HG02465, HG02629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv286e214
Frequency
Sample Size2504
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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