A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608683



Internal ID6995607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35552228..35597898hg38UCSC Ensembl
chr6:35520005..35565675hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3845671
hg1945671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1176e214
Supporting Variantsessv12315633, essv12315620, essv12315640, essv12315636, essv12315635, essv12315637, essv12315627, essv12315619, essv12315642, essv12315623, essv12315630, essv12315634, essv12315632, essv12315641, essv12315631, essv12315624, essv12315629, essv12315638, essv12315639, essv12315621, essv12315622, essv12315626, essv12315628, essv12315625
SamplesHG00114, HG02337, NA19107, HG03572, HG03135, HG02541, NA19197, HG02111, NA19172, HG02471, NA19200, HG01183, HG02678, HG03428, HG01092, HG03202, HG02455, HG03117, HG01342, NA19818, HG01086, HG03112, HG03470, NA19316
Known GenesFKBP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608683
Frequency
Sample Size2504
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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