A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3552788



Internal ID18407178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19269915..19283006hg38UCSC Ensembl
Outerchr1:19266487..19285352hg38UCSC Ensembl
Innerchr1:19596409..19609500hg19UCSC Ensembl
Outerchr1:19592981..19611846hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3818866
hg1918866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751535
Samples
Known GenesAKR7A3, AKR7L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3552788
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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