A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665303



Internal ID9584722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101882338..101883744hg38UCSC Ensembl
Outerchr12:101881967..101884114hg38UCSC Ensembl
Innerchr12:102276116..102277522hg19UCSC Ensembl
Outerchr12:102275745..102277892hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382148
hg192148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5585307, essv6029375, essv5632039, essv5601740, essv6284776, essv6341734, essv5720677, essv5831106, essv5546320, essv5742061, essv6231649, essv6505189, essv6158432, essv5682680, essv6407144, essv5705061, essv5928013, essv6357808, essv5529249, essv6119458, essv5985145, essv6224572, essv5540065, essv6378821, essv6108315, essv6410245, essv6150716, essv6205422, essv5540355, essv5938639, essv6312777, essv5880593, essv6589844, essv5429205, essv6524913, essv6057183, essv6562382, essv5874210, essv6049799, essv5983600, essv5580896, essv6221005, essv5990522, essv5944590, essv6045520, essv6501138, essv5990349, essv5750535, essv6221420, essv5784779, essv5605400, essv6484914, essv5735514, essv6299156, essv6590613, essv5579760, essv6446050, essv6116147, essv6077779
SamplesNA19012, NA18595, NA18951, NA18630, NA18561, NA18952, NA19060, NA18570, NA19072, NA18545, NA18603, NA18948, NA18947, NA18573, NA18546, NA18963, NA18965, NA18943, NA18626, NA18596, NA19077, NA19062, NA19085, NA19054, NA19059, NA19076, NA18622, NA18623, NA18990, NA18956, NA18959, NA18609, NA18973, NA19075, NA18539, NA19080, NA18941, NA18961, NA18613, NA18562, NA18606, NA18543, NA18619, NA18987, NA18983, NA18599, NA18538, NA18544, NA18548, NA19064, NA18944, NA18571, NA18610, NA18984, NA18532, NA18549, NA18574, NA18555, NA19058
Known GenesDRAM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665303
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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