A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583256



Internal ID6707952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26358097..26358428hg38UCSC Ensembl
chr12:26511030..26511361hg19UCSC Ensembl
chr12:26402297..26402628hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38332
hg19332
hg18332
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993210
Supporting Variants
SamplesHuRef
Known GenesITPR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583256
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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