A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733674



Internal ID9967998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:890266..890521hg38UCSC Ensembl
Outerchr7:929903..930158hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6893684
SamplesSSM098
Known GenesGET4
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)esv2733674
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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