A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597177



Internal ID6637447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100615667..100730204hg38UCSC Ensembl
chr3:100334511..100449048hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38114538
hg19114538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv917e214
Supporting Variantsessv11085824, essv11085821, essv11085817, essv11085816, essv11085813, essv11085809, essv11085819, essv11085826, essv11085810, essv11085820, essv11085815, essv11085822, essv11085811, essv11085823, essv11085814, essv11085825, essv11085818, essv11085812
SamplesHG01348, HG01066, HG01531, HG01522, HG01140, HG01702, HG01676, HG01492, HG00736, HG01761, HG01110, HG01121, HG01603, HG01679, HG00258, NA20801, NA20527, HG01620
Known GenesGPR128, TFG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597177
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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