A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12066549



Internal ID2068365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134190344..134193425hg38UCSC Ensembl
Innerchr5:134190394..134193375hg38UCSC Ensembl
Outerchr5:134190262..134193507hg38UCSC Ensembl
chr5:133526035..133529116hg19UCSC Ensembl
Innerchr5:133526085..133529066hg19UCSC Ensembl
Outerchr5:133525953..133529198hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383082
hg193082
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606843
Supporting Variants
SamplesNA20911
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12066549
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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