A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11794540



Internal ID5885353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:4133794..4136865hg38UCSC Ensembl
Innerchr5:4133844..4136815hg38UCSC Ensembl
Outerchr5:4133744..4136915hg38UCSC Ensembl
chr5:4133907..4136978hg19UCSC Ensembl
Innerchr5:4133957..4136928hg19UCSC Ensembl
Outerchr5:4133857..4137028hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383072
hg193072
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603870
Supporting Variants
SamplesNA19310
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11794540
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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