A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9744957



Internal ID18719203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212829961..212839393hg38UCSC Ensembl
Outerchr1:212828659..212841633hg38UCSC Ensembl
Innerchr1:213003303..213012735hg19UCSC Ensembl
Outerchr1:213002001..213014975hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3812975
hg1912975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3546210
Supporting Variants
Samples
Known GenesC1orf227
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9744957
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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