A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12042913



Internal ID6816906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123203986..123211050hg38UCSC Ensembl
Innerchr5:123203986..123211050hg38UCSC Ensembl
Outerchr5:123203486..123211550hg38UCSC Ensembl
chr5:122539680..122546744hg19UCSC Ensembl
Innerchr5:122539680..122546744hg19UCSC Ensembl
Outerchr5:122539180..122547244hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg387065
hg197065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606598
Supporting Variants
SamplesNA20897
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12042913
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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