A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11199783



Internal ID1201599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160768581..160829645hg38UCSC Ensembl
Innerchr3:160768581..160829645hg38UCSC Ensembl
Outerchr3:160768081..160830145hg38UCSC Ensembl
chr3:160486369..160547433hg19UCSC Ensembl
Innerchr3:160486369..160547433hg19UCSC Ensembl
Outerchr3:160485869..160547933hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3861065
hg1961065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598390
Supporting Variants
SamplesHG03808
Known GenesPPM1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11199783
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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