A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363778



Internal ID15210756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130613102..130613246hg38UCSC Ensembl
Innerchr6:130613157..130613189hg38UCSC Ensembl
Outerchr6:130613045..130613303hg38UCSC Ensembl
chr6:130934247..130934391hg19UCSC Ensembl
Innerchr6:130934302..130934334hg19UCSC Ensembl
Outerchr6:130934190..130934448hg19UCSC Ensembl
chr6:130975940..130976084hg18UCSC Ensembl
Innerchr6:130975995..130976027hg18UCSC Ensembl
Outerchr6:130975883..130976141hg18UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38242
hg19242
hg18242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8933094, essv8933095
SamplesNA18573, NA18576
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363778
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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