A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13154936



Internal ID2248251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30614869..30623976hg38UCSC Ensembl
Innerchr8:30614869..30623976hg38UCSC Ensembl
Outerchr8:30614724..30624130hg38UCSC Ensembl
chr8:30472386..30481493hg19UCSC Ensembl
Innerchr8:30472386..30481493hg19UCSC Ensembl
Outerchr8:30472241..30481647hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg389108
hg199108
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616790
Supporting Variants
SamplesHG02014
Known GenesGTF2E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13154936
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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