A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10373312



Internal ID2132330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246833264..246834728hg38UCSC Ensembl
Innerchr1:246833314..246834678hg38UCSC Ensembl
Outerchr1:246833167..246834825hg38UCSC Ensembl
chr1:246996566..246998030hg19UCSC Ensembl
Innerchr1:246996616..246997980hg19UCSC Ensembl
Outerchr1:246996469..246998127hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381465
hg191465
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589492
Supporting Variants
SamplesHG01935
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10373312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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