A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8933094



Internal ID14196743
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 StatusS
Merged Variantsesv3363778
Supporting Variants
SamplesNA18576
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8933094
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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