A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595953



Internal ID6983271
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10989474, essv10989473
SamplesHG01374, HG01447
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595953
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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