A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1025849



Internal ID11842288
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4118291
SamplesHuRef
Known GenesADCK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1025849
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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