A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1318404



Internal ID12481526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152674789..152674789hg38UCSC Ensembl
chr7:152371874..152371874hg19UCSC Ensembl
chr7:152002807..152002807hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4322967
SamplesHuRef
Known GenesXRCC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1318404
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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