A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10257973



Internal ID2244579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198405436..198441920hg38UCSC Ensembl
Innerchr1:198405436..198441920hg38UCSC Ensembl
Outerchr1:198404936..198442420hg38UCSC Ensembl
chr1:198374566..198411050hg19UCSC Ensembl
Innerchr1:198374566..198411050hg19UCSC Ensembl
Outerchr1:198374066..198411550hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3836485
hg1936485
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588524
Supporting Variants
SamplesHG02012
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10257973
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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