A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1226948



Internal ID12043385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66431859..66431859hg38UCSC Ensembl
chr2:66658991..66658991hg19UCSC Ensembl
chr2:66512495..66512495hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38335
hg19335
hg18335
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3646169
SamplesHuRef
Known GenesMEIS1-AS3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1226948
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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