A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11935332



Internal ID1937148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65732242..65734544hg38UCSC Ensembl
Innerchr5:65732244..65734543hg38UCSC Ensembl
Outerchr5:65732241..65734546hg38UCSC Ensembl
chr5:65028069..65030371hg19UCSC Ensembl
Innerchr5:65028071..65030370hg19UCSC Ensembl
Outerchr5:65028068..65030373hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg382303
hg192303
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605303
Supporting Variants
SamplesHG01618
Known GenesNLN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11935332
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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