A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602521



Internal ID6989555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143912755..144019313hg38UCSC Ensembl
Innerchr4:143913255..144018813hg38UCSC Ensembl
Outerchr4:143911755..144020313hg38UCSC Ensembl
chr4:144833908..144940466hg19UCSC Ensembl
Innerchr4:144834408..144939966hg19UCSC Ensembl
Outerchr4:144832908..144941466hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38106559
hg19106559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11637732, essv11637721, essv11637747, essv11637719, essv11637715, essv11637731, essv11637766, essv11637730, essv11637718, essv11637711, essv11637740, essv11637752, essv11637709, essv11637725, essv11637714, essv11637716, essv11637763, essv11637706, essv11637727, essv11637760, essv11637746, essv11637710, essv11637738, essv11637753, essv11637751, essv11637756, essv11637707, essv11637757, essv11637737, essv11637734, essv11637728, essv11637765, essv11637758, essv11637741, essv11637726, essv11637729, essv11637724, essv11637762, essv11637748, essv11637761, essv11637717, essv11637733, essv11637720, essv11637713, essv11637749, essv11637750, essv11637739, essv11637767, essv11637742, essv11637745, essv11637708, essv11637723, essv11637754, essv11637743, essv11637764, essv11637712, essv11637722, essv11637735, essv11637755, essv11637736, essv11637759, essv11637744
SamplesNA19394, HG01986, HG02574, HG02339, HG02973, HG03057, NA19020, NA18917, HG02012, HG03295, HG03139, NA19443, HG03478, HG03572, NA18519, HG03452, HG02840, HG02054, HG01242, HG03520, NA19383, HG02315, NA19235, NA19207, NA20412, NA19901, HG02545, HG03583, NA19027, HG03270, HG03169, HG02716, HG04039, HG03547, HG02953, HG03575, HG01948, NA18499, NA19113, HG01890, NA18523, NA19436, NA20351, HG02982, HG03433, HG02464, HG02814, HG03108, HG03084, NA19248, HG02970, NA19223, HG02107, NA19093, HG02676, NA19102, HG01269, NA19121, HG02947, HG03072, HG02805, HG03439
Known GenesGYPB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602521
Frequency
Sample Size2504
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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