A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9920906



Internal ID5946802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42856732..42859472hg38UCSC Ensembl
Innerchr1:42856782..42859422hg38UCSC Ensembl
Outerchr1:42856666..42859538hg38UCSC Ensembl
chr1:43322403..43325143hg19UCSC Ensembl
Innerchr1:43322453..43325093hg19UCSC Ensembl
Outerchr1:43322337..43325209hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382741
hg192741
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585858
Supporting Variants
SamplesNA19360
Known GenesLOC339539
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9920906
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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