A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607006



Internal ID6993941
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12081711, essv12081705, essv12081700, essv12081699, essv12081704, essv12081703, essv12081710, essv12081713, essv12081706, essv12081701, essv12081709, essv12081707, essv12081698, essv12081708, essv12081702, essv12081697, essv12081712
SamplesHG02250, HG00654, NA18962, HG02151, HG02069, HG00689, HG01843, HG02395, NA18986, HG01851, NA18645, HG00443, HG02070, HG00584, HG01845, HG02188, NA18997
Known GenesFGF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607006
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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