A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589518



Internal ID6629807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247529038..247534550hg38UCSC Ensembl
Innerchr1:247529047..247534541hg38UCSC Ensembl
Outerchr1:247529029..247534559hg38UCSC Ensembl
chr1:247692340..247697852hg19UCSC Ensembl
Innerchr1:247692349..247697843hg19UCSC Ensembl
Outerchr1:247692331..247697861hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385513
hg195513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10373737
SamplesNA21106
Known GenesGCSAML, GCSAML-AS1, OR2C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589518
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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