A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000122



Internal ID7065257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101185412..101185412hg38UCSC Ensembl
chr15:101725617..101725617hg19UCSC Ensembl
chr15:99543140..99543140hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577010
SamplesHuRef
Known GenesCHSY1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000122
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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