A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12045391



Internal ID5073454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123574908..123575736hg38UCSC Ensembl
Innerchr5:123574958..123575686hg38UCSC Ensembl
Outerchr5:123574858..123575786hg38UCSC Ensembl
chr5:122910602..122911430hg19UCSC Ensembl
Innerchr5:122910652..122911380hg19UCSC Ensembl
Outerchr5:122910552..122911480hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606612
Supporting Variants
SamplesNA18541
Known GenesCSNK1G3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12045391
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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