A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438038



Internal ID15284991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71330382..71330398hg38UCSC Ensembl
Innerchr6:71330384..71330394hg38UCSC Ensembl
Outerchr6:71330368..71330412hg38UCSC Ensembl
chr6:72040085..72040101hg19UCSC Ensembl
Innerchr6:72040087..72040097hg19UCSC Ensembl
Outerchr6:72040071..72040115hg19UCSC Ensembl
chr6:72096806..72096822hg18UCSC Ensembl
Innerchr6:72096818..72096808hg18UCSC Ensembl
Outerchr6:72096792..72096836hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8930471, essv8930466, essv8930474, essv8930469, essv8930472, essv8930475, essv8930467, essv8930468, essv8930473
SamplesNA11830, NA11931, NA18504, NA18870, NA18510, NA07357, NA19257, NA18505, NA07000
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438038
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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