A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307091



Internal ID15154039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54393547..54393548hg38UCSC Ensembl
Innerchr6:54393494..54393601hg38UCSC Ensembl
Outerchr6:54393493..54393602hg38UCSC Ensembl
chr6:54258345..54258346hg19UCSC Ensembl
Innerchr6:54258292..54258399hg19UCSC Ensembl
Outerchr6:54258291..54258400hg19UCSC Ensembl
chr6:54366304..54366305hg18UCSC Ensembl
Innerchr6:54366358..54366251hg18UCSC Ensembl
Outerchr6:54366250..54366359hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38110
hg19110
hg18110
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7747785, essv7747010, essv7752075, essv7753516, essv7751162, essv7754099, essv7740364, essv7755597, essv7754719, essv7744384, essv7746420, essv7750037, essv7759039, essv7759625, essv7753047, essv7752834, essv7753147, essv7758193, essv7757508, essv7747520, essv7762482, essv7761026, essv7748762, essv7742969, essv7751606, essv7760454, essv7753820, essv7743196, essv7761323
SamplesNA18947, NA18861, NA18508, NA10851, NA18980, NA07346, NA18916, NA07347, NA12287, NA12044, NA12828, NA11993, NA11831, NA18951, NA18956, NA19114, NA18499, NA11894, NA18853, NA19099, NA19225, NA12144, NA18858, NA19108, NA18943, NA12749, NA18505, NA18522, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307091
Frequency
Sample Size185
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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