A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353906



Internal ID15200887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71477619..71477634hg38UCSC Ensembl
Innerchr5:71477625..71477628hg38UCSC Ensembl
Outerchr5:71477610..71477643hg38UCSC Ensembl
chr5:70773446..70773461hg19UCSC Ensembl
Innerchr5:70773452..70773455hg19UCSC Ensembl
Outerchr5:70773437..70773470hg19UCSC Ensembl
chr5:70809202..70809217hg18UCSC Ensembl
Innerchr5:70809211..70809208hg18UCSC Ensembl
Outerchr5:70809193..70809226hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864469
SamplesNA12005
Known GenesBDP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353906
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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