A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4118291



Internal ID11054144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226955573..226955573hg38UCSC Ensembl
chr1:227143274..227143274hg19UCSC Ensembl
chr1:225209897..225209897hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3893
hg1993
hg1893
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1025849
Supporting Variants
SamplesHuRef
Known GenesADCK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4118291
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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