A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10274415



Internal ID276231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206745666..206747304hg38UCSC Ensembl
Innerchr1:206745690..206747280hg38UCSC Ensembl
Outerchr1:206745642..206747328hg38UCSC Ensembl
chr1:206919011..206920649hg19UCSC Ensembl
Innerchr1:206919035..206920625hg19UCSC Ensembl
Outerchr1:206918987..206920673hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381639
hg191639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588658
Supporting Variants
SamplesNA19096
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10274415
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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