A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608685



Internal ID6995609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35554207..35601118hg38UCSC Ensembl
chr6:35521984..35568895hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3846912
hg1946912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1176e214
Supporting Variantsessv12315781, essv12315787, essv12315794, essv12315801, essv12315790, essv12315799, essv12315807, essv12315796, essv12315800, essv12315804, essv12315792, essv12315806, essv12315785, essv12315797, essv12315779, essv12315805, essv12315789, essv12315802, essv12315795, essv12315782, essv12315783, essv12315784, essv12315788, essv12315803, essv12315798, essv12315786, essv12315791, essv12315780, essv12315793
SamplesHG00114, HG01098, HG02337, HG01188, NA19107, HG03572, HG03135, HG02541, NA19197, HG02111, NA19922, NA18874, NA19172, HG02471, NA19200, HG01183, HG02678, HG03428, HG01049, 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)esv3608685
Frequency
Sample Size2504
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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