A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656972



Internal ID9923077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30115093..30115520hg38UCSC Ensembl
chr18:27695058..27695485hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6306151, essv6278119, essv5760613, essv6227766, essv5805751, essv6211305, essv6009742, essv5445265, essv6345422, essv5479766, essv6539480, essv6110241, essv5861971, essv5984147, essv6417773, essv6534191, essv5730012, essv6076819, essv5521557, essv5667204, essv5430670, essv6449554, essv5864755, essv6354571, essv5722841, essv6397225, essv6007425, essv6530310, essv6217327, essv6347622, essv6459778, essv6237655, essv5670661, essv5843270, essv5752333, essv5396512, essv5536784, essv5399012, essv5710523, essv6374475, essv5516968, essv6160074, essv6530210, essv5924291, essv5546301, essv5635345, essv6507256, essv5624109, essv5869337, essv5561347, essv6150615, essv6487877, essv5518683, essv5966298
SamplesNA19394, NA19700, HG01462, HG00249, NA18861, NA18508, NA19914, NA18980, NA19355, NA18530, NA20507, NA19190, NA19374, NA19746, NA19381, NA19313, NA19138, NA19681, NA18964, NA18949, NA18611, NA19235, NA18908, NA19985, NA19789, NA19921, NA19451, NA18605, NA19210, NA20760, HG00475, NA19717, NA19663, NA18516, NA19788, NA20126, NA18523, NA19395, NA18909, NA18952, HG00625, NA19712, NA19331, NA19144, NA19334, NA19093, NA19770, NA19213, NA18488, NA18522, HG00554, NA19153, NA18562, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656972
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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