A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742728



Internal ID18716974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:107492867..107494131hg38UCSC Ensembl
Outerchr8:107492570..107494181hg38UCSC Ensembl
Innerchr8:108505095..108506359hg19UCSC Ensembl
Outerchr8:108504798..108506409hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381612
hg191612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3543981
Supporting Variants
Samples
Known GenesANGPT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742728
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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