A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384525



Internal ID15231495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155266037..155268635hg38UCSC Ensembl
Innerchr1:155267037..155267635hg38UCSC Ensembl
Outerchr1:155265037..155269635hg38UCSC Ensembl
chr1:155235828..155238426hg19UCSC Ensembl
Innerchr1:155236828..155237426hg19UCSC Ensembl
Outerchr1:155234828..155239426hg19UCSC Ensembl
chr1:153502452..153505050hg18UCSC Ensembl
Innerchr1:153503452..153504050hg18UCSC Ensembl
Outerchr1:153501452..153506050hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691992
SamplesNA19239
Known GenesCLK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384525
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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