A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10330263



Internal ID332079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234395249..234396063hg38UCSC Ensembl
Innerchr1:234395274..234396039hg38UCSC Ensembl
Outerchr1:234395225..234396088hg38UCSC Ensembl
chr1:234530995..234531809hg19UCSC Ensembl
Innerchr1:234531020..234531785hg19UCSC Ensembl
Outerchr1:234530971..234531834hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38815
hg19815
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589171
Supporting Variants
SamplesHG01796
Known GenesTARBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10330263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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