A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549432



Internal ID18750508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240932923..240933905hg38UCSC Ensembl
Outerchr1:240932874..240934116hg38UCSC Ensembl
Innerchr1:241096223..241097205hg19UCSC Ensembl
Outerchr1:241096174..241097416hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381243
hg191243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748179
Samples
Known GenesRGS7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549432
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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