A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379442



Internal ID15226414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2791585..2791597hg38UCSC Ensembl
Innerchr6:2791590..2791592hg38UCSC Ensembl
Outerchr6:2791580..2791602hg38UCSC Ensembl
chr6:2791819..2791831hg19UCSC Ensembl
Innerchr6:2791824..2791826hg19UCSC Ensembl
Outerchr6:2791814..2791836hg19UCSC Ensembl
chr6:2736818..2736830hg18UCSC Ensembl
Innerchr6:2736823..2736825hg18UCSC Ensembl
Outerchr6:2736813..2736835hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864547
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379442
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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