A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052322



Internal ID2623090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69615717..69619980hg38UCSC Ensembl
Innerchr14:69615725..69619972hg38UCSC Ensembl
Outerchr14:69615709..69619988hg38UCSC Ensembl
chr14:70082434..70086697hg19UCSC Ensembl
Innerchr14:70082442..70086689hg19UCSC Ensembl
Outerchr14:70082426..70086705hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg384264
hg194264
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634840
Supporting Variants
SamplesHG02318
Known GenesKIAA0247
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052322
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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