A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10987875



Internal ID4669593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:39643940..39648017hg38UCSC Ensembl
Innerchr3:39643960..39647998hg38UCSC Ensembl
Outerchr3:39643921..39648037hg38UCSC Ensembl
chr3:39685431..39689508hg19UCSC Ensembl
Innerchr3:39685451..39689489hg19UCSC Ensembl
Outerchr3:39685412..39689528hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg384078
hg194078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595933
Supporting Variants
SamplesHG04195
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10987875
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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