A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386218



Internal ID15233187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112287804..112289002hg38UCSC Ensembl
Innerchr2:112288002..112288804hg38UCSC Ensembl
Outerchr2:112286804..112290002hg38UCSC Ensembl
chr2:113045381..113046579hg19UCSC Ensembl
Innerchr2:113045579..113046381hg19UCSC Ensembl
Outerchr2:113044381..113047579hg19UCSC Ensembl
chr2:112761852..112763050hg18UCSC Ensembl
Innerchr2:112762852..112762050hg18UCSC Ensembl
Outerchr2:112760852..112764050hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693373
SamplesNA19239
Known GenesZC3H6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386218
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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