A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725837



Internal ID10309473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:122419578..122419926hg38UCSC Ensembl
Outerchr3:122138425..122138773hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700307, essv6872185, essv6669964, essv6821759, essv6697422, essv6892859, essv6714841, essv6869164, essv6918064, essv6821121, essv6730196, essv6859940, essv6899095, essv6825657, essv6840560, essv6693450, essv6726435, essv6748219, essv6968610, essv6807862, essv6751058, essv6798103, essv6864730, essv6914487, essv6759503, essv6810769, essv6889546, essv6955820, essv6785666, essv6962537, essv6906758, essv6848023, essv6833141, essv6854179, essv6922388, essv6883700, essv6789554, essv6707797, essv6804895, essv6896270, essv6802063, essv6683348, essv6878099, essv6849298, essv6689805, essv6836742, essv6886424
SamplesSSM100, SSM036, SSM083, SSM027, SSM075, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM074, SSM088, SSM041, SSM057, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM061, SSM096, SSM026, SSM089, SSM017, SSM031, SSM014, SSM086, SSM072, SSM082, SSM016, SSM080, SSM037, SSM076, SSM010, SSM091, SSM095, SSM034, SSM099, SSM043, SSM098, SSM056
Known Genes
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)esv2725837
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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