A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007552



Internal ID7072647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12155027..12155081hg38UCSC Ensembl
chr3:12196527..12196581hg19UCSC Ensembl
chr3:12171527..12171581hg18UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575205
SamplesHuRef
Known GenesSYN2, TIMP4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007552
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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