A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3656047



Internal ID12105822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219186827..219186827hg38UCSC Ensembl
chr2:220051549..220051549hg19UCSC Ensembl
chr2:219759793..219759793hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381653
hg191653
hg181653
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1462746
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3656047
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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