A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381478



Internal ID14881754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246613565..246614803hg38UCSC Ensembl
Innerchr1:246613565..246614803hg38UCSC Ensembl
Outerchr1:246613075..246615040hg38UCSC Ensembl
chr1:246776867..246778105hg19UCSC Ensembl
Innerchr1:246776867..246778105hg19UCSC Ensembl
Outerchr1:246776377..246778342hg19UCSC Ensembl
chr1:244843490..244844728hg18UCSC Ensembl
Innerchr1:244843490..244844728hg18UCSC Ensembl
Outerchr1:244843000..244844965hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381239
hg191239
hg181239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652076
SamplesNA19240
Known GenesCNST
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381478
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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