A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1225012



Internal ID12388135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152107937..152108716hg38UCSC Ensembl
chr1:152080413..152081192hg19UCSC Ensembl
chr1:150347037..150347816hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38780
hg19780
hg18780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3990659
SamplesHuRef
Known GenesTCHH
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1225012
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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