A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15046198



Internal ID5048014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67536095..67537567hg38UCSC Ensembl
Innerchr14:67536245..67537417hg38UCSC Ensembl
Outerchr14:67535945..67537717hg38UCSC Ensembl
chr14:68002812..68004284hg19UCSC Ensembl
Innerchr14:68002962..68004134hg19UCSC Ensembl
Outerchr14:68002662..68004434hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634804
Supporting Variants
SamplesHG02645
Known GenesPLEKHH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15046198
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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