A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12030563



Internal ID4166010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116316448..116367559hg38UCSC Ensembl
Innerchr5:116316456..116367552hg38UCSC Ensembl
Outerchr5:116316441..116367567hg38UCSC Ensembl
chr5:115652145..115703256hg19UCSC Ensembl
Innerchr5:115652153..115703249hg19UCSC Ensembl
Outerchr5:115652138..115703264hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3851112
hg1951112
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606400
Supporting Variants
SamplesHG03770
Known GenesLOC101927190
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12030563
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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