A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4040286



Internal ID11721588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12155033..12155088hg38UCSC Ensembl
chr3:12196533..12196588hg19UCSC Ensembl
chr3:12171533..12171588hg18UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1015927
Supporting Variants
SamplesHuRef
Known GenesSYN2, TIMP4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4040286
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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