A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587982



Internal ID6975406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175183272..175195161hg38UCSC Ensembl
Innerchr1:175183292..175195141hg38UCSC Ensembl
Outerchr1:175183252..175195181hg38UCSC Ensembl
chr1:175152408..175164297hg19UCSC Ensembl
Innerchr1:175152428..175164277hg19UCSC Ensembl
Outerchr1:175152388..175164317hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3811890
hg1911890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10190876, essv10190875
SamplesHG00306, HG02121
Known GenesKIAA0040
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587982
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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