A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640082



Internal ID6680172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15739460..15774872hg38UCSC Ensembl
chr17:15642774..15678186hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3835413
hg1935413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv562e214
Supporting Variantsessv15625242, essv15625245, essv15625249, essv15625237, essv15625238, essv15625241, essv15625246, essv15625239, essv15625248, essv15625240, essv15625236, essv15625247, essv15625244, essv15625243
SamplesHG01985, HG02860, HG03777, HG04225, HG00844, NA18626, HG02048, HG02408, HG00476, HG02771, HG02182, HG02351, HG02406, HG02006
Known GenesCDRT15P2, TBC1D26
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640082
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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