A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10266181



Internal ID531214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203783144..203786171hg38UCSC Ensembl
chr1:203752272..203755299hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383028
hg193028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588600
Supporting Variants
SamplesHG00231
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10266181
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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