A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3686679



Internal ID11728504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24007157..24007157hg38UCSC Ensembl
chr12:24160091..24160091hg19UCSC Ensembl
chr12:24051358..24051358hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38468
hg19468
hg18468
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1146003
Supporting Variants
SamplesHuRef
Known GenesSOX5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3686679
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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