A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13254085



Internal ID6523914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91081081..91081749hg38UCSC Ensembl
Innerchr8:91081081..91081749hg38UCSC Ensembl
Outerchr8:91080796..91082006hg38UCSC Ensembl
chr8:92093309..92093977hg19UCSC Ensembl
Innerchr8:92093309..92093977hg19UCSC Ensembl
Outerchr8:92093024..92094234hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618013
Supporting Variants
SamplesNA20543
Known GenesOTUD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13254085
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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