A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1064309



Internal ID11880748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1030615..1030615hg38UCSC Ensembl
chr1:965995..965995hg19UCSC Ensembl
chr1:955858..955858hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38144
hg19144
hg18144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3670093
SamplesHuRef
Known GenesAGRN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1064309
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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