A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10291961



Internal ID3939592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214937786..214940118hg38UCSC Ensembl
Innerchr1:214937826..214940078hg38UCSC Ensembl
Outerchr1:214937746..214940158hg38UCSC Ensembl
chr1:215111129..215113461hg19UCSC Ensembl
Innerchr1:215111169..215113421hg19UCSC Ensembl
Outerchr1:215111089..215113501hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382333
hg192333
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588797
Supporting Variants
SamplesHG03594
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10291961
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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