A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749318



Internal ID9983602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65798080..65798567hg38UCSC Ensembl
Outerchr1:66263763..66264250hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744979, essv6874741, essv6804487, essv6883288, essv6725889, essv6764199, essv6817065, essv6733519, essv6916817, essv6719220, essv6789202, essv6738851, essv6853303, essv6736010, essv6877220, essv6816631, essv6669576, essv6703899, essv6742185, essv6696043, essv6784998, essv6910097, essv6933351, essv6921778, essv6748976, essv6750643, essv6756585, essv6937726, essv6753537, essv6832639
SamplesSSM010, SSM022, SSM007, SSM092, SSM053, SSM082, SSM006, SSM055, SSM040, SSM078, SSM057, SSM001, SSM050, SSM005, SSM012, SSM009, SSM095, SSM021, SSM002, SSM063, SSM087, SSM046, SSM052, SSM015, SSM049, SSM008, SSM018, SSM058, SSM059, SSM070
Known GenesPDE4B
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)esv2749318
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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