A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10342935



Internal ID1621925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:238546660..238631598hg38UCSC Ensembl
chr1:238709960..238794898hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3884939
hg1984939
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589257
Supporting Variants
SamplesHG01501
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10342935
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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