A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588629



Internal ID6976045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205136961..205139095hg38UCSC Ensembl
Innerchr1:205136976..205139081hg38UCSC Ensembl
Outerchr1:205136947..205139110hg38UCSC Ensembl
chr1:205106089..205108223hg19UCSC Ensembl
Innerchr1:205106104..205108209hg19UCSC Ensembl
Outerchr1:205106075..205108238hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382135
hg192135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10269707, essv10269733, essv10269718, essv10269704, essv10269731, essv10269708, essv10269698, essv10269703, essv10269735, essv10269700, essv10269730, essv10269699, essv10269709, essv10269722, essv10269724, essv10269723, essv10269732, essv10269696, essv10269713, essv10269729, essv10269734, essv10269727, essv10269716, essv10269697, essv10269711, essv10269705, essv10269706, essv10269701, essv10269717, essv10269702, essv10269726, essv10269715, essv10269719, essv10269721, essv10269720, essv10269712, essv10269710, essv10269714, essv10269695, essv10269728, essv10269694, essv10269725
SamplesHG03052, HG03057, HG02895, HG03082, HG03464, HG03485, NA18916, NA19457, HG03556, NA19036, HG02946, NA19209, HG03058, HG03055, HG03583, NA20127, HG03363, HG03061, HG03547, HG02511, HG03575, HG02537, NA19449, HG03397, HG03388, NA18853, HG03451, HG02979, NA19160, NA20296, HG03064, NA19108, HG02839, NA20281, NA19475, HG03565, HG03025, HG03077, HG01886, HG01191, HG03439, HG03271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588629
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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