A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3584934



Internal ID6709630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128814189..128814189hg38UCSC Ensembl
chr12:129298734..129298734hg19UCSC Ensembl
chr12:127864687..127864687hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998080
Supporting Variants
SamplesHuRef
Known GenesSLC15A4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3584934
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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