A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10989473



Internal ID1493344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40596596..40597422hg38UCSC Ensembl
Innerchr3:40596600..40597419hg38UCSC Ensembl
Outerchr3:40596593..40597426hg38UCSC Ensembl
chr3:40638087..40638913hg19UCSC Ensembl
Innerchr3:40638091..40638910hg19UCSC Ensembl
Outerchr3:40638084..40638917hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595953
Supporting Variants
SamplesHG01374
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10989473
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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