A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15048441



Internal ID6390117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68160225..68161551hg38UCSC Ensembl
Innerchr14:68160250..68161527hg38UCSC Ensembl
Outerchr14:68160201..68161576hg38UCSC Ensembl
chr14:68626942..68628268hg19UCSC Ensembl
Innerchr14:68626967..68628244hg19UCSC Ensembl
Outerchr14:68626918..68628293hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381327
hg191327
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634816
Supporting Variants
SamplesNA20339
Known GenesRAD51B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15048441
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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