A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3994493



Internal ID11420694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29643455..29643455hg38UCSC Ensembl
chr12:29796388..29796388hg19UCSC Ensembl
chr12:29687655..29687655hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1790446
Supporting Variants
SamplesHuRef
Known GenesTMTC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3994493
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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