A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3857739



Internal ID11557446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201766737..201766737hg38UCSC Ensembl
chr2:202631460..202631460hg19UCSC Ensembl
chr2:202339705..202339705hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1240932
Supporting Variants
SamplesHuRef
Known GenesALS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3857739
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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