A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14955038



Internal ID4956854
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633971
Supporting Variants
SamplesNA19089
Known GenesNUBPL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14955038
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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