A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1172841



Internal ID12335964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180557199..180557199hg38UCSC Ensembl
chr2:181421926..181421926hg19UCSC Ensembl
chr2:181130171..181130171hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38344
hg19344
hg18344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3862326
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1172841
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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