A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11955653



Internal ID3740203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80238295..80255108hg38UCSC Ensembl
Innerchr5:80238295..80255108hg38UCSC Ensembl
Outerchr5:80237795..80255608hg38UCSC Ensembl
chr5:79534114..79550927hg19UCSC Ensembl
Innerchr5:79534114..79550927hg19UCSC Ensembl
Outerchr5:79533614..79551427hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3816814
hg1916814
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605563
Supporting Variants
SamplesHG03372
Known GenesSERINC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11955653
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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