A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595108



Internal ID6635383
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10905378, essv10905379, essv10905377
SamplesHG00274, HG00332, HG00176
Known GenesITPR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595108
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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