A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826803



Internal ID10227605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146602885..146605546hg38UCSC Ensembl
Outerchr7:146299977..146302638hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382662
hg192662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735299
Supporting Variants
SamplesSSM080
Known GenesCNTNAP2
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)essv6826803
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