A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696169



Internal ID15056684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130428124..130429922hg38UCSC Ensembl
Innerchr8:130428922..130429124hg38UCSC Ensembl
Outerchr8:130427124..130430922hg38UCSC Ensembl
chr8:131440370..131442168hg19UCSC Ensembl
Innerchr8:131441168..131441370hg19UCSC Ensembl
Outerchr8:131439370..131443168hg19UCSC Ensembl
chr8:131509552..131511350hg18UCSC Ensembl
Innerchr8:131510552..131510350hg18UCSC Ensembl
Outerchr8:131508552..131512350hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324025
Supporting Variants
SamplesNA19239
Known GenesASAP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696169
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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