A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402665



Internal ID15249627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15415342..15415740hg38UCSC Ensembl
Innerchr6:15415341..15415741hg38UCSC Ensembl
Outerchr6:15414342..15416740hg38UCSC Ensembl
chr6:15415573..15415971hg19UCSC Ensembl
Innerchr6:15415572..15415972hg19UCSC Ensembl
Outerchr6:15414573..15416971hg19UCSC Ensembl
chr6:15523552..15523950hg18UCSC Ensembl
Innerchr6:15523951..15523551hg18UCSC Ensembl
Outerchr6:15522552..15524950hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695062
SamplesNA19239
Known GenesJARID2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402665
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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