A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375492



Internal ID15222467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27594954..27596252hg38UCSC Ensembl
Innerchr1:27595252..27595954hg38UCSC Ensembl
Outerchr1:27593954..27597252hg38UCSC Ensembl
chr1:27921465..27922763hg19UCSC Ensembl
Innerchr1:27921763..27922465hg19UCSC Ensembl
Outerchr1:27920465..27923763hg19UCSC Ensembl
chr1:27794052..27795350hg18UCSC Ensembl
Innerchr1:27795052..27794350hg18UCSC Ensembl
Outerchr1:27793052..27796350hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692272
SamplesNA19239
Known GenesAHDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375492
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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