A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585854



Internal ID6626169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42808921..42810405hg38UCSC Ensembl
Innerchr1:42808921..42810405hg38UCSC Ensembl
Outerchr1:42808676..42810701hg38UCSC Ensembl
chr1:43274592..43276076hg19UCSC Ensembl
Innerchr1:43274592..43276076hg19UCSC Ensembl
Outerchr1:43274347..43276372hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381485
hg191485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9920860
SamplesHG00237
Known GenesCCDC23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585854
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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