A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664799



Internal ID9584218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74051027..74052428hg38UCSC Ensembl
chr14:74517730..74519131hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6533279, essv5564093, essv5775164, essv5702349, essv6011304, essv6494616, essv6377318, essv5735365, essv5534004, essv6481188, essv5774427
SamplesNA19625, HG00231, NA19213, NA19372, NA19704, NA19382, NA19711, NA19462, NA18867, NA19394, NA19381
Known GenesCCDC176
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664799
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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