A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9741426



Internal ID18368986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152320628..152324415hg38UCSC Ensembl
Outerchr7:152320371..152325415hg38UCSC Ensembl
Innerchr7:152017713..152021500hg19UCSC Ensembl
Outerchr7:152017456..152022500hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg385045
hg195045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3542679
Supporting Variants
Samples
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9741426
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer