A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10188427



Internal ID190243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172264387..172278299hg38UCSC Ensembl
Innerchr1:172264387..172278299hg38UCSC Ensembl
Outerchr1:172263887..172278799hg38UCSC Ensembl
chr1:172233527..172247439hg19UCSC Ensembl
Innerchr1:172233527..172247439hg19UCSC Ensembl
Outerchr1:172233027..172247939hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3813913
hg1913913
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587920
Supporting Variants
SamplesHG03989
Known GenesDNM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10188427
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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