A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11953090



Internal ID1954906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80132660..80139735hg38UCSC Ensembl
chr5:79428483..79435558hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg387076
hg197076
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605551
Supporting Variants
SamplesHG03372
Known GenesSERINC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11953090
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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