A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838822



Internal ID15007602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176896940..176896941hg38UCSC Ensembl
Innerchr5:176896909..176896972hg38UCSC Ensembl
Outerchr5:176896908..176896973hg38UCSC Ensembl
chr5:176323941..176323942hg19UCSC Ensembl
Innerchr5:176323910..176323973hg19UCSC Ensembl
Outerchr5:176323909..176323974hg19UCSC Ensembl
chr5:176256547..176256548hg18UCSC Ensembl
Innerchr5:176256579..176256516hg18UCSC Ensembl
Outerchr5:176256515..176256580hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308925
Supporting Variants
SamplesNA19238
Known GenesHK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838822
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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