A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2223e59



Internal ID22763443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118136409..118136534hg38UCSC Ensembl
chr2:118893985..118894110hg19UCSC Ensembl
chr2:118610455..118610580hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38126
hg19126
hg18126
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302908, esv3302635
SamplesNA18502, NA18947, NA11995, NA18861, NA10851, NA12414, NA18507, NA11931, NA18603, NA12004, NA07357, NA07346, NA18944, NA18547, NA18942, NA18916, NA18949, NA12156, NA19238, NA12044, NA11993, NA18951, NA12878, NA18956, NA18948, NA19114, NA12892, NA18532, NA19099, NA18570, NA18858, NA18542, NA18909, NA11881, NA19108, NA18517, NA18564, NA19240, NA18501, NA12749, NA19093, NA18505, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2223e59
Frequency
Sample Size185
Observed Gain43
Observed Loss0
Observed Complex0
Frequencyn/a


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