A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11940889



Internal ID1861399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71615255..71624093hg38UCSC Ensembl
Innerchr5:71615294..71624054hg38UCSC Ensembl
Outerchr5:71615216..71624132hg38UCSC Ensembl
chr5:70911082..70919920hg19UCSC Ensembl
Innerchr5:70911121..70919881hg19UCSC Ensembl
Outerchr5:70911043..70919959hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg388839
hg198839
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605391
Supporting Variants
SamplesHG01762
Known GenesMCCC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11940889
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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