A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1631002



Internal ID12447436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225018488..225018621hg38UCSC Ensembl
chr2:225883205..225883338hg19UCSC Ensembl
chr2:225591449..225591582hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg38134
hg19134
hg18134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3856509
SamplesHuRef
Known GenesDOCK10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1631002
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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