A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422993



Internal ID14923265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47184211..47184322hg38UCSC Ensembl
Innerchr1:47184211..47184322hg38UCSC Ensembl
Outerchr1:47183967..47185189hg38UCSC Ensembl
chr1:47649883..47649994hg19UCSC Ensembl
Innerchr1:47649883..47649994hg19UCSC Ensembl
Outerchr1:47649639..47650861hg19UCSC Ensembl
chr1:47422470..47422581hg18UCSC Ensembl
Innerchr1:47422470..47422581hg18UCSC Ensembl
Outerchr1:47422226..47423448hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38112
hg19112
hg18112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652089
SamplesNA19240
Known GenesPDZK1IP1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422993
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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