A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799271



Internal ID10204114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148414452..148414728hg38UCSC Ensembl
Outerchr7:148111544..148111820hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735324
Supporting Variants
SamplesSSM072
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)essv6799271
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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