A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15019134



Internal ID4914380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55076005..55076966hg38UCSC Ensembl
Innerchr14:55076026..55076945hg38UCSC Ensembl
Outerchr14:55075984..55076987hg38UCSC Ensembl
chr14:55542723..55543684hg19UCSC Ensembl
Innerchr14:55542744..55543663hg19UCSC Ensembl
Outerchr14:55542702..55543705hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38962
hg19962
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634569
Supporting Variants
SamplesNA12750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15019134
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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