A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1283707



Internal ID12100143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148331781..148331781hg38UCSC Ensembl
chr7:148028873..148028873hg19UCSC Ensembl
chr7:147659806..147659806hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38390
hg19390
hg18390
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4339269
SamplesHuRef
Known GenesCNTNAP2, MIR548T
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1283707
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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