A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3728463



Internal ID11686721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123911628..123911628hg38UCSC Ensembl
chr12:124396175..124396175hg19UCSC Ensembl
chr12:122962128..122962128hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1783084
Supporting Variants
SamplesHuRef
Known GenesDNAH10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3728463
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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