A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418427



Internal ID15265385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163230733..163230733hg38UCSC Ensembl
Innerchr6:163230732..163230734hg38UCSC Ensembl
Outerchr6:163230673..163230783hg38UCSC Ensembl
chr6:163651765..163651765hg19UCSC Ensembl
Innerchr6:163651764..163651766hg19UCSC Ensembl
Outerchr6:163651705..163651815hg19UCSC Ensembl
chr6:163571755..163571755hg18UCSC Ensembl
Innerchr6:163571756..163571754hg18UCSC Ensembl
Outerchr6:163571695..163571805hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8837832
SamplesNA12878
Known GenesPACRG
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418427
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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