A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668379



Internal ID9934484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18000083..18000247hg38UCSC Ensembl
chr17:17903397..17903561hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6311501, essv5435426, essv5912487, essv6220798, essv5776093, essv5965234, essv5907610, essv6302142, essv6010787, essv6342293, essv6376104, essv5912111, essv5518234, essv6025059, essv6160709, essv6221980, essv5609366, essv6481463, essv5935605, essv5528419, essv5621032, essv5585517, essv6335921, essv5900256, essv6498560, essv5452145, essv5950531, essv6482349, essv6236080, essv5602354, essv6525258
SamplesHG00654, NA20814, HG01350, NA19315, NA18619, NA19054, NA20287, HG00139, NA12889, NA18973, NA18638, NA18544, HG00583, NA19081, NA18948, NA18534, NA20770, NA18907, NA20299, NA19655, NA20542, HG01148, NA19434, NA19835, NA20803, HG00662, HG00513, NA19780, HG00252, HG00628, NA19065
Known GenesLRRC48
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668379
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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