A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8647395



Internal ID14800104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148209955..148209955hg38UCSC Ensembl
Innerchr5:148209954..148209956hg38UCSC Ensembl
Outerchr5:148209915..148209975hg38UCSC Ensembl
chr5:147589518..147589518hg19UCSC Ensembl
Innerchr5:147589517..147589519hg19UCSC Ensembl
Outerchr5:147589478..147589538hg19UCSC Ensembl
chr5:147569711..147569711hg18UCSC Ensembl
Innerchr5:147569712..147569710hg18UCSC Ensembl
Outerchr5:147569671..147569731hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3342088
Supporting Variants
Samples
Known GenesSPINK6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8647395
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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