A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896312



Internal ID2616929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32062022..32062616hg38UCSC Ensembl
Innerchr1:32062072..32062566hg38UCSC Ensembl
Outerchr1:32061940..32062698hg38UCSC Ensembl
chr1:32527623..32528217hg19UCSC Ensembl
Innerchr1:32527673..32528167hg19UCSC Ensembl
Outerchr1:32527541..32528299hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585661
Supporting Variants
SamplesHG02315
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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