A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617196



Internal ID6657392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51407973..51411341hg38UCSC Ensembl
Innerchr8:51407990..51411324hg38UCSC Ensembl
Outerchr8:51407956..51411358hg38UCSC Ensembl
chr8:52320533..52323901hg19UCSC Ensembl
Innerchr8:52320550..52323884hg19UCSC Ensembl
Outerchr8:52320516..52323918hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg383369
hg193369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13200247, essv13200248
SamplesHG03585, HG03826
Known GenesPXDNL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617196
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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