A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633971



Internal ID6674090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31571620..31574767hg38UCSC Ensembl
Innerchr14:31571670..31574717hg38UCSC Ensembl
Outerchr14:31571569..31574818hg38UCSC Ensembl
chr14:32040826..32043973hg19UCSC Ensembl
Innerchr14:32040876..32043923hg19UCSC Ensembl
Outerchr14:32040775..32044024hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg383148
hg193148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14955038
SamplesNA19089
Known GenesNUBPL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633971
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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