A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1301171



Internal ID12117607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82099424..82099761hg38UCSC Ensembl
chr7:81728740..81729077hg19UCSC Ensembl
chr7:81566676..81567013hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38338
hg19338
hg18338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4056403
SamplesHuRef
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1301171
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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