A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8837624



Internal ID13674630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146636080..146636080hg38UCSC Ensembl
Innerchr6:146636079..146636081hg38UCSC Ensembl
Outerchr6:146636020..146636130hg38UCSC Ensembl
chr6:146957216..146957216hg19UCSC Ensembl
Innerchr6:146957215..146957217hg19UCSC Ensembl
Outerchr6:146957156..146957266hg19UCSC Ensembl
chr6:146998909..146998909hg18UCSC Ensembl
Innerchr6:146998910..146998908hg18UCSC Ensembl
Outerchr6:146998849..146998959hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3422508
Supporting Variants
SamplesNA12878
Known GenesADGB
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8837624
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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