A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3327563



Internal ID15174547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34070797..34073595hg38UCSC Ensembl
Innerchr6:34071797..34072595hg38UCSC Ensembl
Outerchr6:34069797..34074595hg38UCSC Ensembl
chr6:34038574..34041372hg19UCSC Ensembl
Innerchr6:34039574..34040372hg19UCSC Ensembl
Outerchr6:34037574..34042372hg19UCSC Ensembl
chr6:34146552..34149350hg18UCSC Ensembl
Innerchr6:34147552..34148350hg18UCSC Ensembl
Outerchr6:34145552..34150350hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3486e59
Supporting Variantsessv8695278
SamplesNA12878
Known GenesGRM4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3327563
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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