A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671092



Internal ID9937197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:142615495..142619055hg38UCSC Ensembl
Outerchr5:142615461..142619090hg38UCSC Ensembl
Innerchr5:141995060..141998620hg19UCSC Ensembl
Outerchr5:141995026..141998655hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383630
hg193630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1046e199
Supporting Variantsessv6550975
SamplesHG00689
Known GenesFGF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671092
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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