A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647623



Internal ID6687677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33339893..33341078hg38UCSC Ensembl
Innerchr22:33339893..33341078hg38UCSC Ensembl
Outerchr22:33339655..33341473hg38UCSC Ensembl
chr22:33735879..33737064hg19UCSC Ensembl
Innerchr22:33735879..33737064hg19UCSC Ensembl
Outerchr22:33735641..33737459hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381186
hg191186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16407749, essv16407719, essv16407756, essv16407720, essv16407731, essv16407728, essv16407725, essv16407758, essv16407738, essv16407754, essv16407752, essv16407755, essv16407716, essv16407750, essv16407724, essv16407729, essv16407723, essv16407748, essv16407762, essv16407759, essv16407741, essv16407747, essv16407730, essv16407743, essv16407761, essv16407766, essv16407732, essv16407745, essv16407768, essv16407746, essv16407763, essv16407765, essv16407721, essv16407722, essv16407733, essv16407734, essv16407715, essv16407726, essv16407742, essv16407736, essv16407739, essv16407767, essv16407744, essv16407751, essv16407757, essv16407764, essv16407717, essv16407737, essv16407718, essv16407727, essv16407714, essv16407740, essv16407735, essv16407760, essv16407753
SamplesHG02574, HG02890, HG03366, HG02433, HG03517, HG01280, HG02836, HG02012, HG02870, HG03521, HG02589, NA20356, NA20359, NA19171, NA19119, NA19138, HG01242, NA19130, HG02981, HG02143, NA19383, NA20340, HG03380, NA19189, HG03225, HG03055, HG02882, NA20318, NA18915, HG02887, HG03563, NA19461, HG03382, HG02577, NA18856, NA18912, HG03046, NA18523, NA19160, HG02594, HG01257, HG03567, NA19308, HG03240, NA19108, HG03539, HG01915, HG02982, HG03127, NA20281, HG03442, HG02970, HG03066, HG03049, NA19030
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647623
Frequency
Sample Size2504
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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