A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10331790



Internal ID1451918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235042638..235056097hg38UCSC Ensembl
Innerchr1:235042638..235056097hg38UCSC Ensembl
Outerchr1:235042138..235056464hg38UCSC Ensembl
chr1:235178385..235191844hg19UCSC Ensembl
Innerchr1:235178385..235191844hg19UCSC Ensembl
Outerchr1:235177885..235192344hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3813460
hg1913460
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589188
Supporting Variants
SamplesHG01344
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10331790
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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