A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv616e201



Internal ID20125503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130674635..131312550hg38UCSC Ensembl
chr2:131432208..132070123hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38637916
hg19637916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2720771, esv2720774
SamplesSSM059, SSM036, SSM071, SSM027, SSM046, SSM065, SSM050, SSM074, SSM002, SSM023, SSM058, SSM021, SSM047, SSM029, SSM096, SSM026, SSM094, SSM044, SSM014, SSM033, SSM006, SSM040, SSM082, SSM016, SSM005, SSM077, SSM010, SSM070, SSM025, SSM004, SSM049, SSM063
Known GenesAMER3, ARHGEF4, CYP4F30P, FAM168B, GPR148, LOC440910, PLEKHB2, POTEE
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)dgv616e201
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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