A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1357413



Internal ID12173849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127979504..127979593hg38UCSC Ensembl
chr2:128737078..128737167hg19UCSC Ensembl
chr2:128453548..128453637hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4039727
SamplesHuRef
Known GenesSAP130
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1357413
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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