A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11902676



Internal ID3658055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52281271..52284473hg38UCSC Ensembl
Innerchr5:52281421..52284323hg38UCSC Ensembl
Outerchr5:52281121..52284623hg38UCSC Ensembl
chr5:51577105..51580307hg19UCSC Ensembl
Innerchr5:51577255..51580157hg19UCSC Ensembl
Outerchr5:51576955..51580457hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383203
hg193203
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605055
Supporting Variants
SamplesHG03258
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11902676
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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