A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3616391



Internal ID11798791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226956025..226957059hg38UCSC Ensembl
chr1:227143726..227144760hg19UCSC Ensembl
chr1:225210349..225211383hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381035
hg191035
hg181035
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1090769
Supporting Variants
SamplesHuRef
Known GenesADCK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3616391
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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