A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13309021



Internal ID2123326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123213688..123218660hg38UCSC Ensembl
Innerchr8:123213688..123218660hg38UCSC Ensembl
Outerchr8:123213536..123218766hg38UCSC Ensembl
chr8:124225928..124230900hg19UCSC Ensembl
Innerchr8:124225928..124230900hg19UCSC Ensembl
Outerchr8:124225776..124231006hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384973
hg194973
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618664
Supporting Variants
SamplesHG01927
Known GenesMIR4663
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13309021
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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