A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1495220



Internal ID12658342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102848284..102848354hg38UCSC Ensembl
chr12:103242062..103242132hg19UCSC Ensembl
chr12:101766192..101766262hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4260063
SamplesHuRef
Known GenesPAH
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1495220
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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