A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6204953



Internal ID9182356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68301829..68466947hg38UCSC Ensembl
chr11:68069297..68234415hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38165119
hg19165119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656496
Supporting Variants
SamplesNA18977
Known GenesLRP5, PPP6R3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6204953
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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