A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371951



Internal ID15218927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106672376..106672393hg38UCSC Ensembl
Innerchr6:106672375..106672394hg38UCSC Ensembl
Outerchr6:106672358..106672411hg38UCSC Ensembl
chr6:107120251..107120268hg19UCSC Ensembl
Innerchr6:107120250..107120269hg19UCSC Ensembl
Outerchr6:107120233..107120286hg19UCSC Ensembl
chr6:107226944..107226961hg18UCSC Ensembl
Innerchr6:107226962..107226943hg18UCSC Ensembl
Outerchr6:107226926..107226979hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8931933, essv8931935, essv8931934, essv8931937, essv8931939, essv8931940, essv8931938
SamplesNA18502, NA18508, NA19210, NA18856, NA18858, NA18505, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371951
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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