A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555966



Internal ID18410356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45531072..45532624hg38UCSC Ensembl
Outerchr2:45530885..45532865hg38UCSC Ensembl
Innerchr2:45758211..45759763hg19UCSC Ensembl
Outerchr2:45758024..45760004hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381981
hg191981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754713
Samples
Known GenesSRBD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555966
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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