A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1448345



Internal ID12264781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864256..8865283hg38UCSC Ensembl
chr12:9016852..9017879hg19UCSC Ensembl
chr12:8908119..8909146hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381028
hg191028
hg181028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3893805
SamplesHuRef
Known GenesA2ML1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1448345
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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