A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584976



Internal ID6972500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:733250..914824hg38UCSC Ensembl
Innerchr1:733400..914674hg38UCSC Ensembl
Outerchr1:733100..914974hg38UCSC Ensembl
chr1:668630..850204hg19UCSC Ensembl
Innerchr1:668780..850054hg19UCSC Ensembl
Outerchr1:668480..850354hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38181575
hg19181575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9839002, essv9838996, essv9838989, essv9839015, essv9838981, essv9839030, essv9839007, essv9839025, essv9839004, essv9838992, essv9839033, essv9838999, essv9839010, essv9839029, essv9839031, essv9838998, essv9839023, essv9838984, essv9839026, essv9838987, essv9838983, essv9838994, essv9838993, essv9839018, essv9838995, essv9839032, essv9839024, essv9839009, essv9838980, essv9839019, essv9839035, essv9839027, essv9838988, essv9838978, essv9839020, essv9838979, essv9839006, essv9839011, essv9839008, essv9838977, essv9839005, essv9838997, essv9839000, essv9839014, essv9838986, essv9839017, essv9838985, essv9839022, essv9839016, essv9839012, essv9839013, essv9839021, essv9839001, essv9839003, essv9839036, essv9838991, essv9838990, essv9839034, essv9839028, essv9838982
SamplesNA18947, HG00766, HG00457, HG00306, NA18639, HG02017, HG02384, HG00879, NA20359, HG00663, HG02383, NA18635, NA18567, NA18571, HG01840, NA19079, HG00867, HG02512, NA18990, NA18557, NA19025, HG00675, HG00543, NA18951, HG01867, HG01871, NA19006, HG00557, HG01857, HG00475, NA18572, HG00692, NA18573, HG00690, HG02086, NA18553, HG00463, NA18535, NA18564, NA19072, HG01798, NA19083, HG00620, HG04141, HG02181, HG02398, HG00614, HG00513, HG02373, HG00446, HG02401, HG01868, HG01028, HG02392, HG02116, NA18972, HG02353, HG02028, NA18620, HG00593
Known GenesFAM41C, FAM87B, LINC00115, LINC01128, LOC100288069
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3584976
Frequency
Sample Size2504
Observed Gain60
Observed Loss0
Observed Complex0
Frequencyn/a


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