A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571560



Internal ID6696256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122525791..122526119hg38UCSC Ensembl
chr12:123010338..123010666hg19UCSC Ensembl
chr12:121576291..121576619hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38329
hg19329
hg18329
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993685
Supporting Variants
SamplesHuRef
Known GenesRSRC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571560
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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