A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10010250



Internal ID12066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89010247..89012930hg38UCSC Ensembl
Innerchr1:89010247..89012930hg38UCSC Ensembl
Outerchr1:89009765..89013368hg38UCSC Ensembl
chr1:89475930..89478613hg19UCSC Ensembl
Innerchr1:89475930..89478613hg19UCSC Ensembl
Outerchr1:89475448..89479051hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382684
hg192684
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586751
Supporting Variants
SamplesHG01685
Known GenesGBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10010250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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