A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721666



Internal ID3272162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233672402..233682522hg38UCSC Ensembl
Outerchr2:234581048..234591168hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3810121
hg1910121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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
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)esv2721666
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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