A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637635



Internal ID7024426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2650514..2690486hg38UCSC Ensembl
chr16:2700515..2740487hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3839973
hg1939973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15362767, essv15362798, essv15362788, essv15362751, essv15362795, essv15362763, essv15362783, essv15362769, essv15362759, essv15362806, essv15362785, essv15362786, essv15362802, essv15362771, essv15362764, essv15362772, essv15362801, essv15362768, essv15362770, essv15362804, essv15362787, essv15362790, essv15362750, essv15362747, essv15362805, essv15362794, essv15362752, essv15362797, essv15362780, essv15362803, essv15362765, essv15362777, essv15362773, essv15362784, essv15362791, essv15362754, essv15362756, essv15362779, essv15362775, essv15362776, essv15362755, essv15362757, essv15362792, essv15362789, essv15362800, essv15362749, essv15362807, essv15362793, essv15362774, essv15362748, essv15362781, essv15362761, essv15362799, essv15362753, essv15362778, essv15362758, essv15362760, essv15362796, essv15362766, essv15362762, essv15362782
SamplesHG02298, HG01280, HG03589, HG01686, HG03895, HG00177, NA18627, NA12813, NA12812, HG00251, HG01853, HG04206, HG02521, HG00458, HG00330, HG03885, NA21108, HG02278, HG00632, HG02315, HG00406, HG00160, HG03073, NA18640, HG00530, HG01256, HG00108, HG01565, HG01784, HG01136, HG03120, HG00183, HG01247, HG02380, HG01271, HG00701, HG03775, NA20525, NA20299, HG00613, HG04152, NA18570, HG02594, HG00376, HG00476, HG02682, HG00734, HG00278, NA20887, HG00125, NA19475, HG01491, NA20849, HG01783, HG01055, HG02116, NA18873, HG00554, NA12776, HG02060, HG01516
Known GenesERVK13-1, KCTD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637635
Frequency
Sample Size2504
Observed Gain61
Observed Loss0
Observed Complex0
Frequencyn/a


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