A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3541123



Internal ID18742199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:156556938..156559140hg38UCSC Ensembl
Outerchr1:156556631..156559225hg38UCSC Ensembl
Innerchr1:156526730..156528932hg19UCSC Ensembl
Outerchr1:156526423..156529017hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382595
hg192595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739870
Samples
Known GenesIQGAP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3541123
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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