A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1314700



Internal ID12477822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3591531..3591646hg38UCSC Ensembl
chr2:3639121..3639236hg19UCSC Ensembl
chr2:3616996..3617111hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38116
hg19116
hg18116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4101186
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1314700
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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