A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv229e201



Internal ID22759587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71552990..71553330hg38UCSC Ensembl
chr13:72127122..72127462hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2747606, esv2747604
SamplesSSM036, SSM083, SSM071, SSM027, SSM046, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM074, SSM088, SSM002, SSM023, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM089, SSM017, SSM019, SSM094, SSM003, SSM031, SSM067, SSM086, SSM033, SSM066, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM005, SSM037, SSM077, SSM022, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM098, SSM056, SSM012
Known GenesDACH1
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)dgv229e201
Frequency
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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