A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3486e59



Internal ID22764706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34070797..34073895hg38UCSC Ensembl
chr6:34038574..34041672hg19UCSC Ensembl
chr6:34146552..34149650hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3327563, esv3367793
SamplesNA12878, NA19240
Known GenesGRM4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3486e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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