A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15055508



Internal ID438027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72866240..72867102hg38UCSC Ensembl
Innerchr14:72866241..72867102hg38UCSC Ensembl
Outerchr14:72866240..72867103hg38UCSC Ensembl
chr14:73332948..73333810hg19UCSC Ensembl
Innerchr14:73332949..73333810hg19UCSC Ensembl
Outerchr14:73332948..73333811hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38863
hg19863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634894
Supporting Variants
SamplesHG00136
Known GenesDPF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15055508
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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