A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11818074



Internal ID1819890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13791991..14184173hg38UCSC Ensembl
Innerchr5:13792141..14184023hg38UCSC Ensembl
Outerchr5:13791841..14184323hg38UCSC Ensembl
chr5:13792100..14184282hg19UCSC Ensembl
Innerchr5:13792250..14184132hg19UCSC Ensembl
Outerchr5:13791950..14184432hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38392183
hg19392183
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604076
Supporting Variants
SamplesHG03175
Known GenesDNAH5, TRIO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11818074
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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