A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640931



Internal ID6681016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60692566..60694270hg38UCSC Ensembl
Innerchr17:60692716..60694120hg38UCSC Ensembl
Outerchr17:60692416..60694420hg38UCSC Ensembl
chr17:58769927..58771631hg19UCSC Ensembl
Innerchr17:58770077..58771481hg19UCSC Ensembl
Outerchr17:58769777..58771781hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381705
hg191705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15716113, essv15716115, essv15716118, essv15716100, essv15716095, essv15716094, essv15716102, essv15716124, essv15716084, essv15716110, essv15716121, essv15716120, essv15716085, essv15716111, essv15716098, essv15716114, essv15716125, essv15716082, essv15716107, essv15716073, essv15716104, essv15716091, essv15716079, essv15716101, essv15716122, essv15716075, essv15716116, essv15716077, essv15716109, essv15716103, essv15716081, essv15716092, essv15716119, essv15716076, essv15716080, essv15716112, essv15716123, essv15716087, essv15716108, essv15716097, essv15716117, essv15716106, essv15716088, essv15716074, essv15716086, essv15716083, essv15716089, essv15716078, essv15716090, essv15716099, essv15716093, essv15716105, essv15716096, essv15716126
SamplesHG03370, NA19146, HG02810, HG03410, HG02549, NA19401, NA19317, HG02885, NA19019, HG03103, HG02817, HG03039, HG01950, HG01551, NA19037, HG03159, HG02811, NA19028, NA18912, HG01048, HG03442, HG03439, HG02861, NA19397, HG02643, HG03539, NA19324, HG02757, HG03225, HG02814, HG02840, HG01097, HG02768, HG01989, HG02337, NA19119, HG03472, HG02623, HG02611, NA19175, HG02771, HG01447, HG02614, HG03108, NA19038, HG01405, NA19391, NA19403, NA19431, HG01886, NA19315, HG02813, HG02855, NA19466
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640931
Frequency
Sample Size2504
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer