A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6969797



Internal ID10075349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147347247..147347710hg38UCSC Ensembl
Outerchr7:147044339..147044802hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735307
Supporting Variants
SamplesSSM028
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)essv6969797
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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