A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10266220



Internal ID4337571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203890124..203892907hg38UCSC Ensembl
Innerchr1:203890137..203892894hg38UCSC Ensembl
Outerchr1:203890111..203892920hg38UCSC Ensembl
chr1:203859252..203862035hg19UCSC Ensembl
Innerchr1:203859265..203862022hg19UCSC Ensembl
Outerchr1:203859239..203862048hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382784
hg192784
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588606
Supporting Variants
SamplesHG03875
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10266220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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