A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696174



Internal ID15056699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134570227..134572625hg38UCSC Ensembl
Innerchr8:134571227..134571625hg38UCSC Ensembl
Outerchr8:134569227..134573625hg38UCSC Ensembl
chr8:135582470..135584868hg19UCSC Ensembl
Innerchr8:135583470..135583868hg19UCSC Ensembl
Outerchr8:135581470..135585868hg19UCSC Ensembl
chr8:135651652..135654050hg18UCSC Ensembl
Innerchr8:135652652..135653050hg18UCSC Ensembl
Outerchr8:135650652..135655050hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353370
Supporting Variants
SamplesNA19239
Known GenesZFAT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696174
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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