A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1338019



Internal ID12154455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161696236..161696629hg38UCSC Ensembl
chr2:162552746..162553139hg19UCSC Ensembl
chr2:162260992..162261385hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38394
hg19394
hg18394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4238770
SamplesHuRef
Known GenesSLC4A10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1338019
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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