A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12016905



Internal ID3919530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109760741..109766235hg38UCSC Ensembl
Innerchr5:109760757..109766220hg38UCSC Ensembl
Outerchr5:109760726..109766251hg38UCSC Ensembl
chr5:109096442..109101936hg19UCSC Ensembl
Innerchr5:109096458..109101921hg19UCSC Ensembl
Outerchr5:109096427..109101952hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg385495
hg195495
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606225
Supporting Variants
SamplesHG03572
Known GenesMAN2A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12016905
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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