A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1314079



Internal ID12130516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132743185..132743185hg38UCSC Ensembl
chr10:134556689..134556689hg19UCSC Ensembl
chr10:134406679..134406679hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38116
hg19116
hg18116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3603626
SamplesHuRef
Known GenesINPP5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1314079
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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