A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640341



Internal ID7027116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30541885..30607520hg38UCSC Ensembl
chr17:28868903..28934538hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3865636
hg1965636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15657365
SamplesHG01341
Known GenesLRRC37BP1, TBC1D29
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640341
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer