A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587740



Internal ID6975163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162104470..162394594hg38UCSC Ensembl
Innerchr1:162104620..162394444hg38UCSC Ensembl
Outerchr1:162104320..162394744hg38UCSC Ensembl
chr1:162074260..162364384hg19UCSC Ensembl
Innerchr1:162074410..162364234hg19UCSC Ensembl
Outerchr1:162074110..162364534hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38290125
hg19290125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10169318
SamplesHG00428
Known GenesC1orf111, C1orf226, MIR4654, MIR556, NOS1AP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587740
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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