A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302922



Internal ID14803184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56826065..56826286hg38UCSC Ensembl
Innerchr18:56826165..56826186hg38UCSC Ensembl
Outerchr18:56825965..56826386hg38UCSC Ensembl
chr18:54493296..54493517hg19UCSC Ensembl
Innerchr18:54493396..54493417hg19UCSC Ensembl
Outerchr18:54493196..54493617hg19UCSC Ensembl
chr18:52644294..52644515hg18UCSC Ensembl
Innerchr18:52644394..52644415hg18UCSC Ensembl
Outerchr18:52644194..52644615hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7734399, essv7738371, essv7733237, essv7737010, essv7738161, essv7734489, essv7733547, essv7732226, essv7736967, essv7737578, essv7736181, essv7734612, essv7736333, essv7739272, essv7736898, essv7734284, essv7735684, essv7732429, essv7733571, essv7731772, essv7735087, essv7734381, essv7738433, essv7732898, essv7735916, essv7736442, essv7738231, essv7737177, essv7737373, essv7733510, essv7734114, essv7736303, essv7737918, essv7736623, essv7738825, essv7736415, essv7737688, essv7736850
SamplesNA18964, NA12249, NA18605, NA07347, NA12750, NA07037, NA11920, NA10847, NA18948, NA11931, NA12828, NA18608, NA18949, NA11919, NA12004, NA18566, NA12155, NA18592, NA18609, NA11894, NA18973, NA12751, NA07346, NA18537, NA19102, NA06986, NA18858, NA18942, NA18562, NA18579, NA10851, NA18552, NA12156, NA12003, NA18571, NA12045, NA12717, NA18555
Known GenesWDR7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302922
Frequency
Sample Size185
Observed Gain38
Observed Loss0
Observed Complex0
Frequencyn/a


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