A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134142



Internal ID2135958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173069976..173074704hg38UCSC Ensembl
Innerchr5:173070476..173074204hg38UCSC Ensembl
Outerchr5:173068976..173075704hg38UCSC Ensembl
chr5:172496979..172501707hg19UCSC Ensembl
Innerchr5:172497479..172501207hg19UCSC Ensembl
Outerchr5:172495979..172502707hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg384729
hg194729
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607607
Supporting Variants
SamplesHG03717
Known GenesCREBRF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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