A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13267704



Internal ID5667226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100215697..100217114hg38UCSC Ensembl
Innerchr8:100215727..100217084hg38UCSC Ensembl
Outerchr8:100215667..100217144hg38UCSC Ensembl
chr8:101227925..101229342hg19UCSC Ensembl
Innerchr8:101227955..101229312hg19UCSC Ensembl
Outerchr8:101227895..101229372hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381418
hg191418
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618186
Supporting Variants
SamplesNA19075
Known GenesSPAG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13267704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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