A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663822



Internal ID9929927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30824286..30824777hg38UCSC Ensembl
chr3:30865778..30866269hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6281397, essv5874792, essv6504678, essv5576152, essv6421563, essv5857155, essv6569857, essv6104553
SamplesNA18502, NA19391, NA18856, HG01075, NA18909, NA19398, NA19093, HG01125
Known GenesGADL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663822
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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