A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758906



Internal ID18386466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132914302..132916479hg38UCSC Ensembl
Outerchr2:132914254..132916929hg38UCSC Ensembl
Innerchr2:133671875..133674052hg19UCSC Ensembl
Outerchr2:133671827..133674502hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg382676
hg192676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560159
Supporting Variants
Samples
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758906
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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