A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10373737



Internal ID375553
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589518
Supporting Variants
SamplesNA21106
Known GenesGCSAML, GCSAML-AS1, OR2C3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10373737
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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