A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307097



Internal ID15154045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71330384..71330385hg38UCSC Ensembl
Innerchr6:71330367..71330402hg38UCSC Ensembl
Outerchr6:71330366..71330403hg38UCSC Ensembl
chr6:72040087..72040088hg19UCSC Ensembl
Innerchr6:72040070..72040105hg19UCSC Ensembl
Outerchr6:72040069..72040106hg19UCSC Ensembl
chr6:72096808..72096809hg18UCSC Ensembl
Innerchr6:72096826..72096791hg18UCSC Ensembl
Outerchr6:72096790..72096827hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38165
hg19165
hg18165
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7805939, essv7790758, essv7806414, essv7833266, essv7776276, essv7836535, essv7784403, essv7797052, essv7773573
SamplesNA11830, NA11931, NA18504, NA18870, NA18510, NA07357, NA19257, NA18505, NA07000
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307097
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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