A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383499



Internal ID14883775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172347611..172347630hg38UCSC Ensembl
Innerchr5:172347607..172347634hg38UCSC Ensembl
Outerchr5:172347588..172347653hg38UCSC Ensembl
chr5:171774615..171774634hg19UCSC Ensembl
Innerchr5:171774611..171774638hg19UCSC Ensembl
Outerchr5:171774592..171774657hg19UCSC Ensembl
chr5:171707220..171707239hg18UCSC Ensembl
Innerchr5:171707243..171707216hg18UCSC Ensembl
Outerchr5:171707197..171707262hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678973
SamplesNA19240
Known GenesSH3PXD2B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383499
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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