A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640083



Internal ID7026861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15739460..15774872hg38UCSC Ensembl
chr17:15642774..15678186hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3835413
hg1935413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15625255, essv15625252, essv15625292, essv15625273, essv15625280, essv15625275, essv15625296, essv15625271, essv15625295, essv15625277, essv15625261, essv15625267, essv15625265, essv15625272, essv15625258, essv15625288, essv15625269, essv15625297, essv15625251, essv15625298, essv15625262, essv15625284, essv15625250, essv15625285, essv15625254, essv15625290, essv15625270, essv15625287, essv15625278, essv15625253, essv15625260, essv15625257, essv15625286, essv15625263, essv15625281, essv15625274, essv15625279, essv15625289, essv15625294, essv15625266, essv15625256, essv15625291, essv15625264, essv15625259, essv15625293, essv15625276, essv15625283, essv15625282, essv15625268
SamplesNA20339, HG03366, NA18861, NA18507, NA18881, HG02798, NA19092, HG03190, HG03518, HG03577, HG02485, HG03578, HG02054, HG01063, NA19138, HG01393, HG02111, HG02505, HG03556, HG03268, HG02885, HG03352, HG03380, HG02545, HG03267, HG02442, HG03088, HG01879, NA18871, HG03081, HG03311, HG03382, NA19042, HG03388, HG02884, NA19095, NA18858, HG01896, NA19147, HG01108, HG03557, HG03279, NA18972, HG03401, NA18505, HG02855, NA18488, NA18511, HG03196
Known GenesCDRT15P2, TBC1D26
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640083
Frequency
Sample Size2504
Observed Gain49
Observed Loss0
Observed Complex0
Frequencyn/a


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