A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12153076



Internal ID2154892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180684834..180791723hg38UCSC Ensembl
Innerchr5:180684984..180791573hg38UCSC Ensembl
Outerchr5:180684684..180791873hg38UCSC Ensembl
chr5:180111834..180218723hg19UCSC Ensembl
Innerchr5:180111984..180218573hg19UCSC Ensembl
Outerchr5:180111684..180218873hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38106890
hg19106890
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607791
Supporting Variants
SamplesHG01709
Known GenesMGAT1, OR2Y1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12153076
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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