A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721666



Internal ID5068956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234581048..234591168hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6722388, essv6869079, essv6804782, essv6955562, essv6933801, essv6848154, essv6920851, essv6748134, essv6829436, essv6953984, essv6726304, essv6718602, essv6788488, essv6942347, essv6847780, essv6922235, essv6801967, essv6902969, essv6910533, essv6859769, essv6892740, essv6878003, essv6840434, essv6917919, essv6672698, essv6872083, essv6938147, essv6951036, essv6739241, essv6722448, essv6896169, essv6711035, essv6962324, essv6781384
SamplesSSM022, SSM007, SSM027, SSM013, SSM086, SSM091, SSM084, SSM099, SSM042, SSM088, SSM090, SSM025, SSM045, SSM005, SSM093, SSM056, SSM017, SSM009, SSM011, SSM003, SSM073, SSM021, SSM046, SSM023, SSM052, SSM068, SSM044, SSM074, SSM004, SSM015, SSM026, SSM098, SSM018, SSM081
Known GenesUGT1A10, UGT1A7, UGT1A8, UGT1A9
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721666
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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