A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13200492



Internal ID6565186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52301024..52301692hg38UCSC Ensembl
Innerchr8:52301063..52301653hg38UCSC Ensembl
Outerchr8:52300985..52301731hg38UCSC Ensembl
chr8:53213584..53214252hg19UCSC Ensembl
Innerchr8:53213623..53214213hg19UCSC Ensembl
Outerchr8:53213545..53214291hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617209
Supporting Variants
SamplesNA20758
Known GenesST18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13200492
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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