A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663213



Internal ID9929318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34790342..34790582hg38UCSC Ensembl
chr18:32370306..32370546hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6046563, essv6464900, essv5809272, essv5891948, essv6455291, essv6138968, essv6052963, essv5718968, essv5977363, essv5409102, essv6491584, essv5858887, essv6489212, essv6145327, essv5989343, essv5620679, essv5538313, essv6386183, essv6131785, essv5552913, essv5711365, essv5444334, essv5615000, essv6557491, essv5622960, essv6109456, essv5478987, essv6252917, essv6482537, essv6458849, essv6498636, essv6141804, essv6114191, essv6452770, essv6196898, essv6320216, essv5727117, essv5947163, essv5505481, essv5602441, essv5910959, essv5440280, essv6070133, essv5698296, essv6342941, essv5900419, essv5602012, essv6225216, essv5977841, essv6565315, essv5622285, essv6236142, essv5860902, essv5881491, essv5942507, essv6397871, essv5839611, essv6322535, essv6453680, essv6567782
SamplesHG01356, HG00142, HG00233, HG00244, NA19359, NA19819, NA19393, HG01051, NA19920, HG00337, HG00327, HG01250, NA19381, NA19379, HG01070, HG00272, NA20586, NA18558, NA11992, HG00185, HG00243, NA12761, HG00139, NA12282, HG01069, HG01170, NA19372, NA19385, HG00182, NA18520, HG00323, NA12748, HG01124, HG00543, HG00188, NA18544, HG00657, NA19391, HG00320, HG01390, HG00250, HG00331, HG01383, HG00246, HG01107, HG00258, HG00285, NA18543, HG00638, HG00237, HG01108, NA19360, HG00256, HG00269, NA18501, HG00372, NA07056, NA19463, HG01437, HG01516
Known GenesDTNA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663213
Frequency
Sample Size1151
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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