A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13194939



Internal ID4560150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48780157..48783358hg38UCSC Ensembl
Innerchr8:48780162..48783353hg38UCSC Ensembl
Outerchr8:48780152..48783363hg38UCSC Ensembl
chr8:49692716..49695917hg19UCSC Ensembl
Innerchr8:49692721..49695912hg19UCSC Ensembl
Outerchr8:49692711..49695922hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617126
Supporting Variants
SamplesHG04061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13194939
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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