A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367793



Internal ID15214769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34070797..34073895hg38UCSC Ensembl
Innerchr6:34071797..34072895hg38UCSC Ensembl
Outerchr6:34069797..34074895hg38UCSC Ensembl
chr6:34038574..34041672hg19UCSC Ensembl
Innerchr6:34039574..34040672hg19UCSC Ensembl
Outerchr6:34037574..34042672hg19UCSC Ensembl
chr6:34146552..34149650hg18UCSC Ensembl
Innerchr6:34147552..34148650hg18UCSC Ensembl
Outerchr6:34145552..34150650hg18UCSC 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 Variantsdgv3486e59
Supporting Variantsessv8695279
SamplesNA19240
Known GenesGRM4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367793
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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