A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695030



Internal ID15050213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12405334..12407632hg38UCSC Ensembl
Innerchr6:12406334..12406632hg38UCSC Ensembl
Outerchr6:12404334..12408632hg38UCSC Ensembl
chr6:12405566..12407864hg19UCSC Ensembl
Innerchr6:12406566..12406864hg19UCSC Ensembl
Outerchr6:12404566..12408864hg19UCSC Ensembl
chr6:12513552..12515850hg18UCSC Ensembl
Innerchr6:12514552..12514850hg18UCSC Ensembl
Outerchr6:12512552..12516850hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3385730
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695030
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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