A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864670



Internal ID12970580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:155245757..155245770hg38UCSC Ensembl
Innerchr6:155245759..155245768hg38UCSC Ensembl
Outerchr6:155245755..155245772hg38UCSC Ensembl
chr6:155566891..155566904hg19UCSC Ensembl
Innerchr6:155566893..155566902hg19UCSC Ensembl
Outerchr6:155566889..155566906hg19UCSC Ensembl
chr6:155608583..155608596hg18UCSC Ensembl
Innerchr6:155608585..155608594hg18UCSC Ensembl
Outerchr6:155608581..155608598hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3400314
Supporting Variants
SamplesNA12005
Known GenesTIAM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864670
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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