A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561154



Internal ID18415544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232382659..232405179hg38UCSC Ensembl
Outerchr2:232378383..232408862hg38UCSC Ensembl
Innerchr2:233247369..233269889hg19UCSC Ensembl
Outerchr2:233243093..233273572hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3830480
hg1930480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759901
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561154
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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