A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1524405



Internal ID12340841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148331685..148331685hg38UCSC Ensembl
chr7:148028777..148028777hg19UCSC Ensembl
chr7:147659710..147659710hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38182
hg19182
hg18182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3838709
SamplesHuRef
Known GenesCNTNAP2, MIR548T
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1524405
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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