A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12102450



Internal ID679806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:152283749..152324945hg38UCSC Ensembl
Innerchr5:152283760..152324935hg38UCSC Ensembl
Outerchr5:152283739..152324956hg38UCSC Ensembl
chr5:151663310..151704506hg19UCSC Ensembl
Innerchr5:151663321..151704496hg19UCSC Ensembl
Outerchr5:151663300..151704517hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3841197
hg1941197
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607199
Supporting Variants
SamplesHG00319
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12102450
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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