A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12081706



Internal ID2442181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142615456..142619090hg38UCSC Ensembl
Innerchr5:142615456..142619090hg38UCSC Ensembl
Outerchr5:142615189..142619402hg38UCSC Ensembl
chr5:141995021..141998655hg19UCSC Ensembl
Innerchr5:141995021..141998655hg19UCSC Ensembl
Outerchr5:141994754..141998967hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383635
hg193635
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607006
Supporting Variants
SamplesHG02151
Known GenesFGF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12081706
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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