A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1408843



Internal ID12225280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24251471..24251603hg38UCSC Ensembl
chr2:24474340..24474472hg19UCSC Ensembl
chr2:24327844..24327976hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38133
hg19133
hg18133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3794879
SamplesHuRef
Known GenesITSN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1408843
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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