A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1133e201



Internal ID20126020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152403727..152403926hg38UCSC Ensembl
chr7:152100812..152101011hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2735447, esv2735449
SamplesSSM065, SSM022, SSM027, SSM013, SSM033, SSM084, SSM031, SSM020, SSM016, SSM032, SSM067, SSM093, SSM029, SSM047, SSM021, SSM087, SSM019, SSM096, SSM023, SSM079, SSM068, SSM074, SSM015, SSM026
Known GenesKMT2C
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)dgv1133e201
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer