A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10e201



Internal ID18983649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16483566..16677119hg38UCSC Ensembl
chr1:16810061..17003614hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38193554
hg19193554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2744452, esv2744419
SamplesSSM055, SSM033, SSM084, SSM078, SSM043, SSM025, SSM057, SSM001, SSM077, SSM005, SSM056, SSM017, SSM009, SSM066, SSM095, SSM047, SSM034, SSM038, SSM019, SSM023, SSM068
Known GenesCROCCP2, CROCCP3, LOC729574, MIR3675, MST1P2, NBPF1
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)dgv10e201
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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