A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6024512



Internal ID9001915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137879158..137882742hg38UCSC Ensembl
chr9:140773610..140777194hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383585
hg193585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666889
Supporting Variants
SamplesNA11932
Known GenesCACNA1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6024512
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