A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606645



Internal ID6993580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124984482..125013596hg38UCSC Ensembl
Innerchr5:124984982..125013096hg38UCSC Ensembl
Outerchr5:124983482..125014596hg38UCSC Ensembl
chr5:124320175..124349289hg19UCSC Ensembl
Innerchr5:124320675..124348789hg19UCSC Ensembl
Outerchr5:124319175..124350289hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3829115
hg1929115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12047922, essv12047923
SamplesHG01495, NA20778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606645
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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