A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv635e201



Internal ID22759993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237211456..237212115hg38UCSC Ensembl
chr2:238120099..238120758hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2721715, esv2721717
SamplesSSM100, SSM036, SSM008, SSM071, SSM027, SSM024, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM042, SSM088, SSM084, SSM090, SSM021, SSM047, SSM069, SSM026, SSM067, SSM014, SSM066, SSM085, SSM015, SSM016, SSM037, SSM077, SSM022, SSM070, SSM025, SSM052, 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)dgv635e201
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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