A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570708



Internal ID6695404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24277446..24277446hg38UCSC Ensembl
chr12:24430380..24430380hg19UCSC Ensembl
chr12:24321647..24321647hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993084
Supporting Variants
SamplesHuRef
Known GenesSOX5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570708
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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