A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587840



Internal ID6628141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166943987..166945405hg38UCSC Ensembl
Innerchr1:166944030..166945362hg38UCSC Ensembl
Outerchr1:166943944..166945448hg38UCSC Ensembl
chr1:166913224..166914642hg19UCSC Ensembl
Innerchr1:166913267..166914599hg19UCSC Ensembl
Outerchr1:166913181..166914685hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381419
hg191419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10181207, essv10181206
SamplesHG01122, HG01768
Known GenesILDR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587840
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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