A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604216



Internal ID6991246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17788078..17854729hg38UCSC Ensembl
Innerchr5:17788078..17854729hg38UCSC Ensembl
Outerchr5:17787578..17855229hg38UCSC Ensembl
chr5:17788187..17854838hg19UCSC Ensembl
Innerchr5:17788187..17854838hg19UCSC Ensembl
Outerchr5:17787687..17855338hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3866652
hg1966652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11825101
SamplesHG03631
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604216
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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