A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10905378



Internal ID907194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4602819..4610466hg38UCSC Ensembl
Innerchr3:4602819..4610466hg38UCSC Ensembl
Outerchr3:4602501..4610779hg38UCSC Ensembl
chr3:4644503..4652150hg19UCSC Ensembl
Innerchr3:4644503..4652150hg19UCSC Ensembl
Outerchr3:4644185..4652463hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg387648
hg197648
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595108
Supporting Variants
SamplesHG00274
Known GenesITPR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10905378
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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