A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3869520



Internal ID11892351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106467436..106467436hg38UCSC Ensembl
chr2:107083892..107083892hg19UCSC Ensembl
chr2:106450324..106450324hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1179092
Supporting Variants
SamplesHuRef
Known GenesRGPD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3869520
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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