A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4180252



Internal ID11116104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26358104..26358436hg38UCSC Ensembl
chr12:26511037..26511369hg19UCSC Ensembl
chr12:26402304..26402636hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38333
hg19333
hg18333
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1263874
Supporting Variants
SamplesHuRef
Known GenesITPR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4180252
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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