A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6299554



Internal ID8809973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73487066..73487330hg38UCSC Ensembl
Outerchr14:73487029..73487380hg38UCSC Ensembl
Innerchr14:73953771..73954035hg19UCSC Ensembl
Outerchr14:73953734..73954085hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662160
Supporting Variants
SamplesHG00253
Known GenesHEATR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6299554
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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