A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8837832



Internal ID13677071
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 Flag1
Merged StatusS
Merged Variantsesv3418427
Supporting Variants
SamplesNA12878
Known GenesPACRG
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8837832
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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