A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10324136



Internal ID3677928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232921309..232922070hg38UCSC Ensembl
Innerchr1:232921312..232922067hg38UCSC Ensembl
Outerchr1:232921306..232922073hg38UCSC Ensembl
chr1:233057055..233057816hg19UCSC Ensembl
Innerchr1:233057058..233057813hg19UCSC Ensembl
Outerchr1:233057052..233057819hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589142
Supporting Variants
SamplesHG03279
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10324136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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