A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9761129



Internal ID18735375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56422050..56422298hg38UCSC Ensembl
Outerchr1:56422016..56422364hg38UCSC Ensembl
Innerchr1:56887722..56887970hg19UCSC Ensembl
Outerchr1:56887688..56888036hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3562382
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9761129
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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