A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15035932



Internal ID5037748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60897179..60930390hg38UCSC Ensembl
Innerchr14:60897179..60930390hg38UCSC Ensembl
Outerchr14:60896679..60930890hg38UCSC Ensembl
chr14:61363897..61397108hg19UCSC Ensembl
Innerchr14:61363897..61397108hg19UCSC Ensembl
Outerchr14:61363397..61397608hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3833212
hg1933212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634677
Supporting Variants
SamplesNA20785
Known GenesMNAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15035932
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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