A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589507



Internal ID6629796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247081286..247144632hg38UCSC Ensembl
Innerchr1:247081286..247144632hg38UCSC Ensembl
Outerchr1:247080786..247145132hg38UCSC Ensembl
chr1:247244588..247307934hg19UCSC Ensembl
Innerchr1:247244588..247307934hg19UCSC Ensembl
Outerchr1:247244088..247308434hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3863347
hg1963347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10373647
SamplesNA20863
Known GenesC1orf229, ZNF124, ZNF669
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589507
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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