A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609928



Internal ID6996847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90714133..90715436hg38UCSC Ensembl
Innerchr6:90714133..90715436hg38UCSC Ensembl
Outerchr6:90714044..90715516hg38UCSC Ensembl
chr6:91423852..91425155hg19UCSC Ensembl
Innerchr6:91423852..91425155hg19UCSC Ensembl
Outerchr6:91423763..91425235hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12461644, essv12461634, essv12461642, essv12461643, essv12461641, essv12461649, essv12461648, essv12461636, essv12461645, essv12461640, essv12461639, essv12461646, essv12461638, essv12461650, essv12461635, essv12461647, essv12461637
SamplesNA18745, HG01855, NA18565, HG02050, HG00717, NA18597, NA18560, HG01849, HG00982, HG00657, HG01029, HG00407, NA18978, NA18543, HG02398, HG00409, HG02028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609928
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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