A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10258801



Internal ID4356168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198804620..198806286hg38UCSC Ensembl
Innerchr1:198804620..198806286hg38UCSC Ensembl
Outerchr1:198804620..198806286hg38UCSC Ensembl
chr1:198773749..198775415hg19UCSC Ensembl
Innerchr1:198773749..198775415hg19UCSC Ensembl
Outerchr1:198773749..198775415hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381667
hg191667
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588535
Supporting Variants
SamplesHG03890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10258801
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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