A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808884



Internal ID13299755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11522391..11522943hg38UCSC Ensembl
Innerchr1:11522390..11522944hg38UCSC Ensembl
Outerchr1:11522281..11523063hg38UCSC Ensembl
chr1:11582448..11583000hg19UCSC Ensembl
Innerchr1:11582447..11583001hg19UCSC Ensembl
Outerchr1:11582338..11583120hg19UCSC Ensembl
chr1:11505035..11505587hg18UCSC Ensembl
Innerchr1:11505588..11505034hg18UCSC Ensembl
Outerchr1:11504925..11505707hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38553
hg19553
hg18553
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380219
Supporting Variants
SamplesNA12878
Known GenesPTCHD2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808884
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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