A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1042104



Internal ID12205229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85879385..85879385hg38UCSC Ensembl
chr12:86273163..86273163hg19UCSC Ensembl
chr12:84797294..84797294hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38188
hg19188
hg18188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3701935
SamplesHuRef
Known GenesNTS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1042104
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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