A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894424



Internal ID6519717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27879549..27935475hg38UCSC Ensembl
chr1:28206060..28261986hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3855927
hg1955927
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585564
Supporting Variants
SamplesHG02786
Known GenesRPA2, SMPDL3B, THEMIS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894424
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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