A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692189



Internal ID13364014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236713429..236715127hg38UCSC Ensembl
Innerchr1:236714127..236714429hg38UCSC Ensembl
Outerchr1:236712429..236716127hg38UCSC Ensembl
chr1:236876729..236878427hg19UCSC Ensembl
Innerchr1:236877427..236877729hg19UCSC Ensembl
Outerchr1:236875729..236879427hg19UCSC Ensembl
chr1:234943352..234945050hg18UCSC Ensembl
Innerchr1:234944352..234944050hg18UCSC Ensembl
Outerchr1:234942352..234946050hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3368260
Supporting Variants
SamplesNA12891
Known GenesACTN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692189
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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