A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13322955



Internal ID2273748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127920848..127926355hg38UCSC Ensembl
Innerchr8:127920848..127926355hg38UCSC Ensembl
Outerchr8:127920675..127926535hg38UCSC Ensembl
chr8:128933094..128938601hg19UCSC Ensembl
Innerchr8:128933094..128938601hg19UCSC Ensembl
Outerchr8:128932921..128938781hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385508
hg195508
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618784
Supporting Variants
SamplesHG02029
Known GenesPVT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13322955
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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