A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672934



Internal ID9592353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14052902..14055207hg38UCSC Ensembl
chr10:14094901..14097206hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382306
hg192306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv121e199
Supporting Variantsessv6289374, essv5940104, essv5737391, essv5810506
SamplesNA19383, NA19371, NA19471, NA19439
Known GenesFRMD4A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672934
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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