A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15002770



Internal ID782634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45941476..46020985hg38UCSC Ensembl
Innerchr14:45941626..46020835hg38UCSC Ensembl
Outerchr14:45941326..46021135hg38UCSC Ensembl
chr14:46410679..46490188hg19UCSC Ensembl
Innerchr14:46410829..46490038hg19UCSC Ensembl
Outerchr14:46410529..46490338hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3879510
hg1979510
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634366
Supporting Variants
SamplesHG00369
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15002770
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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