A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672106



Internal ID9591525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206523183..206525289hg38UCSC Ensembl
Outerchr1:206522812..206525659hg38UCSC Ensembl
Innerchr1:206696516..206698622hg19UCSC Ensembl
Outerchr1:206696145..206698992hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5986289, essv6372810, essv6094628, essv6350262, essv5852781, essv5776753, essv5910456, essv6148416, essv5917226, essv6328572, essv6155711, essv5514066, essv6442061, essv5603710, essv5663311, essv5475999, essv6121362, essv6263715, essv6403158, essv5629869, essv5681799, essv6503101, essv5760339, essv5816368, essv6327447, essv5864048, essv5701663, essv5833360, essv6344855, essv6257602, essv6006302, essv6119238, essv6438196, essv5748773, essv6279126, essv5505401, essv5583455
SamplesNA19783, NA19788, NA19685, NA19648, NA19651, NA19678, NA19682, NA19780, NA19761, NA19776, NA19654, NA19762, NA19726, NA19652, NA19660, NA19675, NA19722, NA19681, NA19663, NA19679, NA19684, NA19676, NA19725, NA19716, NA19657, NA19664, NA19720, NA19789, NA19723, NA19719, NA19755, NA19749, NA19717, NA19655, NA19756, NA19750, NA19661
Known GenesRASSF5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672106
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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