A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748213



Internal ID18722459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241197258..241197503hg38UCSC Ensembl
Outerchr1:241197227..241197565hg38UCSC Ensembl
Innerchr1:241360558..241360803hg19UCSC Ensembl
Outerchr1:241360527..241360865hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549466
Supporting Variants
Samples
Known GenesRGS7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748213
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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