A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11955651



Internal ID1777574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80221522..80229322hg38UCSC Ensembl
Innerchr5:80222022..80228822hg38UCSC Ensembl
Outerchr5:80220522..80230322hg38UCSC Ensembl
chr5:79517341..79525141hg19UCSC Ensembl
Innerchr5:79517841..79524641hg19UCSC Ensembl
Outerchr5:79516341..79526141hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg387801
hg197801
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605561
Supporting Variants
SamplesHG01631
Known GenesSERINC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11955651
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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