A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13714424



Internal ID2616589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:20837069..20843466hg38UCSC Ensembl
Innerchr10:20837085..20843450hg38UCSC Ensembl
Outerchr10:20837053..20843482hg38UCSC Ensembl
chr10:21125998..21132395hg19UCSC Ensembl
Innerchr10:21126014..21132379hg19UCSC Ensembl
Outerchr10:21125982..21132411hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg386398
hg196398
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622566
Supporting Variants
SamplesHG02315
Known GenesNEBL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13714424
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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