A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv637e201



Internal ID22759995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238295469..238296440hg38UCSC Ensembl
chr2:239204110..239205081hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38972
hg19972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2721758, esv2721760
SamplesSSM059, SSM071, SSM027, SSM064, SSM065, SSM013, SSM009, SSM093, SSM050, SSM042, SSM088, SSM002, SSM057, SSM058, SSM028, SSM092, SSM018, SSM096, SSM062, SSM026, SSM089, SSM031, SSM067, SSM001, SSM006, SSM085, SSM081, SSM007, SSM015, SSM078, SSM053, SSM070, SSM043, SSM052, SSM049, SSM056, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv637e201
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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