A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432277



Internal ID15279233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51729616..51729635hg38UCSC Ensembl
Innerchr5:51729612..51729639hg38UCSC Ensembl
Outerchr5:51729593..51729658hg38UCSC Ensembl
chr5:51025450..51025469hg19UCSC Ensembl
Innerchr5:51025446..51025473hg19UCSC Ensembl
Outerchr5:51025427..51025492hg19UCSC Ensembl
chr5:51061207..51061226hg18UCSC Ensembl
Innerchr5:51061230..51061203hg18UCSC Ensembl
Outerchr5:51061184..51061249hg18UCSC Ensembl
Cytoband5q11.2
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 Variantsessv9622102
SamplesNA12812
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432277
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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