A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735451



Internal ID10319087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152412076..152412362hg38UCSC Ensembl
Outerchr7:152109161..152109447hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964357, essv6935147, essv6680770, essv6975485, essv6740326, essv6737261, essv6743436
SamplesSSM027, SSM050, SSM021, SSM029, SSM033, SSM053, SSM052
Known GenesKMT2C
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2735451
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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