A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15035931



Internal ID5037747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60741847..60746868hg38UCSC Ensembl
Innerchr14:60741847..60746868hg38UCSC Ensembl
Outerchr14:60741347..60747368hg38UCSC Ensembl
chr14:61208565..61213586hg19UCSC Ensembl
Innerchr14:61208565..61213586hg19UCSC Ensembl
Outerchr14:61208065..61214086hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg385022
hg195022
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634676
Supporting Variants
SamplesNA20813
Known GenesMNAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15035931
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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