A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12046145



Internal ID6364349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124203848..124210644hg38UCSC Ensembl
Innerchr5:124203848..124210644hg38UCSC Ensembl
Outerchr5:124203714..124210770hg38UCSC Ensembl
chr5:123539541..123546337hg19UCSC Ensembl
Innerchr5:123539541..123546337hg19UCSC Ensembl
Outerchr5:123539407..123546463hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386797
hg196797
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606628
Supporting Variants
SamplesNA20294
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12046145
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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