A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13963429



Internal ID746048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125167353..125170826hg38UCSC Ensembl
Innerchr10:125167503..125170676hg38UCSC Ensembl
Outerchr10:125167203..125170976hg38UCSC Ensembl
chr10:126855922..126859395hg19UCSC Ensembl
Innerchr10:126856072..126859245hg19UCSC Ensembl
Outerchr10:126855772..126859545hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383474
hg193474
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624824
Supporting Variants
SamplesHG00351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13963429
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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