A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858509



Internal ID10010875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147347399..147347518hg38UCSC Ensembl
Outerchr7:147044491..147044610hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735307, esv2735308
Supporting Variants
SamplesSSM011
Known GenesCNTNAP2, MIR548I4
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)essv6858509
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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