A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3646169



Internal ID11769013
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1226948
Supporting Variants
SamplesHuRef
Known GenesMEIS1-AS3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3646169
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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