A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608985



Internal ID6649218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51802144..51804573hg38UCSC Ensembl
Innerchr6:51802144..51804573hg38UCSC Ensembl
Outerchr6:51801950..51804849hg38UCSC Ensembl
chr6:51666942..51669371hg19UCSC Ensembl
Innerchr6:51666942..51669371hg19UCSC Ensembl
Outerchr6:51666748..51669647hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382430
hg192430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12347136, essv12347115, essv12347065, essv12347083, essv12347130, essv12347099, essv12347076, essv12347108, essv12347100, essv12347096, essv12347087, essv12347097, essv12347106, essv12347113, essv12347131, essv12347101, essv12347107, essv12347090, essv12347102, essv12347064, essv12347104, essv12347110, essv12347091, essv12347125, essv12347120, essv12347127, essv12347134, essv12347105, essv12347114, essv12347063, essv12347068, essv12347072, essv12347092, essv12347077, essv12347084, essv12347116, essv12347078, essv12347073, essv12347074, essv12347079, essv12347089, essv12347080, essv12347111, essv12347081, essv12347123, essv12347118, essv12347094, essv12347124, essv12347133, essv12347137, essv12347061, essv12347117, essv12347093, essv12347135, essv12347060, essv12347075, essv12347128, essv12347121, essv12347071, essv12347062, essv12347082, essv12347095, essv12347070, essv12347126, essv12347112, essv12347066, essv12347067, essv12347132, essv12347088, essv12347129, essv12347069, essv12347086, essv12347109, essv12347103, essv12347098, essv12347122, essv12347085, essv12347119
SamplesNA20281, NA19146, NA19030, NA19436, HG03354, HG03382, NA20278, NA18871, NA19819, NA19114, HG02816, HG01064, HG03563, HG02549, NA19401, HG03196, HG03057, HG02974, HG02014, HG01915, HG03401, HG03378, HG02976, NA19147, NA19043, HG03376, HG02836, NA19914, NA18912, HG03054, HG03484, NA19197, HG02968, HG01088, NA19397, HG02851, NA20282, HG03079, NA19700, HG02442, NA19372, HG02054, HG03040, NA19206, NA19027, NA20334, HG02594, HG03514, HG02343, HG02938, HG02971, HG02307, HG02582, HG03132, HG02281, NA19038, HG02819, NA19035, NA18867, HG03061, HG02144, NA19099, HG03476, HG03081, HG03074, HG02678, NA19160, HG03369, HG02721, HG02485, NA19171, NA18853, NA19350, HG02051, HG02574, HG03517, HG02505, NA19092
Known GenesPKHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608985
Frequency
Sample Size2504
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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