A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443949



Internal ID15290902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42081358..42081393hg38UCSC Ensembl
Innerchr6:42081360..42081391hg38UCSC Ensembl
Outerchr6:42081356..42081395hg38UCSC Ensembl
chr6:42049096..42049131hg19UCSC Ensembl
Innerchr6:42049098..42049129hg19UCSC Ensembl
Outerchr6:42049094..42049133hg19UCSC Ensembl
chr6:42157074..42157109hg18UCSC Ensembl
Innerchr6:42157076..42157107hg18UCSC Ensembl
Outerchr6:42157072..42157111hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864577
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443949
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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