A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv640e201



Internal ID22759998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239231355..239232210hg38UCSC Ensembl
chr2:240153051..240153906hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2721823, esv2721822
SamplesSSM100, SSM036, SSM008, SSM071, SSM027, SSM024, SSM046, SSM011, SSM087, SSM093, SSM042, SSM002, SSM023, SSM058, SSM021, SSM047, SSM029, SSM096, SSM026, SSM089, SSM035, SSM032, SSM031, SSM067, SSM033, SSM020, SSM007, SSM076, SSM022, SSM010, SSM095, SSM099, SSM012
Known GenesHDAC4
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)dgv640e201
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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