A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10304267



Internal ID3688670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223072807..223079750hg38UCSC Ensembl
Innerchr1:223072814..223079744hg38UCSC Ensembl
Outerchr1:223072801..223079757hg38UCSC Ensembl
chr1:223246149..223253092hg19UCSC Ensembl
Innerchr1:223246156..223253086hg19UCSC Ensembl
Outerchr1:223246143..223253099hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386944
hg196944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588953
Supporting Variants
SamplesHG03295
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10304267
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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