A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662733



Internal ID9928838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64623682..64624699hg38UCSC Ensembl
chr12:65017462..65018479hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381018
hg191018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv298e199
Supporting Variantsessv6375029, essv5627803, essv6591819, essv5672880, essv5397862, essv6063133, essv5541323, essv6449349, essv5537692, essv6531726, essv5501399, essv5491118
SamplesNA18502, NA18507, NA18486, NA20346, NA19319, NA19985, NA19908, NA19391, NA20296, NA19440, NA19223, NA19713
Known GenesRASSF3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662733
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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