A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864817



Internal ID12970768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22299219..22299227hg38UCSC Ensembl
Innerchr8:22299221..22299225hg38UCSC Ensembl
Outerchr8:22299217..22299229hg38UCSC Ensembl
chr8:22156732..22156740hg19UCSC Ensembl
Innerchr8:22156734..22156738hg19UCSC Ensembl
Outerchr8:22156730..22156742hg19UCSC Ensembl
chr8:22212677..22212685hg18UCSC Ensembl
Innerchr8:22212679..22212683hg18UCSC Ensembl
Outerchr8:22212675..22212687hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3409921
Supporting Variants
SamplesNA12005
Known GenesPIWIL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864817
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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