A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12081730



Internal ID5443048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142617128..142620196hg38UCSC Ensembl
Innerchr5:142617132..142620193hg38UCSC Ensembl
Outerchr5:142617125..142620200hg38UCSC Ensembl
chr5:141996693..141999761hg19UCSC Ensembl
Innerchr5:141996697..141999758hg19UCSC Ensembl
Outerchr5:141996690..141999765hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383069
hg193069
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607007
Supporting Variants
SamplesNA18962
Known GenesFGF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12081730
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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