A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv706e214



Internal ID20122129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75581910..75690050hg38UCSC Ensembl
chr2:75809036..75917176hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38108141
hg19108141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3591303, esv3591302
SamplesNA18956, NA18555
Known GenesGCFC2, MRPL19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv706e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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