A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6304412



Internal ID9666439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50251143..50260292hg38UCSC Ensembl
chr14:50717861..50727010hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg389150
hg199150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664640
Supporting Variants
SamplesNA19397
Known GenesL2HGDH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6304412
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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