A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4288724



Internal ID11224576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27281070..27281401hg38UCSC Ensembl
chr12:27434003..27434334hg19UCSC Ensembl
chr12:27325270..27325601hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38332
hg19332
hg18332
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1525868
Supporting Variants
SamplesHuRef
Known GenesSTK38L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4288724
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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