A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052464



Internal ID2733555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69820244..69830816hg38UCSC Ensembl
Innerchr14:69820244..69830816hg38UCSC Ensembl
Outerchr14:69819744..69831316hg38UCSC Ensembl
chr14:70286961..70297533hg19UCSC Ensembl
Innerchr14:70286961..70297533hg19UCSC Ensembl
Outerchr14:70286461..70298033hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3810573
hg1910573
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634845
Supporting Variants
SamplesHG02402
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052464
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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