A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326332



Internal ID14826612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156735394..156735659hg38UCSC Ensembl
Innerchr1:156735394..156735659hg38UCSC Ensembl
Outerchr1:156734433..156736183hg38UCSC Ensembl
chr1:156705186..156705451hg19UCSC Ensembl
Innerchr1:156705186..156705451hg19UCSC Ensembl
Outerchr1:156704225..156705975hg19UCSC Ensembl
chr1:154971810..154972075hg18UCSC Ensembl
Innerchr1:154971810..154972075hg18UCSC Ensembl
Outerchr1:154970849..154972599hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38266
hg19266
hg18266
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652046
SamplesNA19240
Known GenesRRNAD1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326332
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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