A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725901



Internal ID9960207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129380821..129487939hg38UCSC Ensembl
Outerchr3:129099664..129206782hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38107119
hg19107119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700312, essv6759513, essv6892864, essv6789610, essv6723388, essv6864741, essv6751070, essv6722594, essv6869171, essv6742600, essv6910665, essv6821769, essv6844391, essv6699454, essv6821767, essv6711194, essv6802069, essv6707804, essv6825660, essv6875176, essv6825661, essv6697427, essv6739362, essv6730202, essv6748224, essv6955827, essv6739361, essv6947121, essv6667193, essv6807869, essv6880883, essv6926209, essv6759511, essv6770145, essv6973546, essv6896273, essv6821768, essv6669980, essv6838153, essv6955195, essv6700313, essv6883705, essv6889552, essv6848039, essv6781517, essv6751068, essv6789599, essv6781518, essv6836749, essv6938297, essv6914492, essv6785671, essv6751069, essv6777519, essv6726440, essv6714848, essv6686655, essv6821177, essv6840565, essv6951207, essv6764566, essv6759512, essv6726441, essv6921984, essv6962546, essv6929733, essv6878103, essv6903092, essv6886434, essv6813704, essv6774011, essv6689813, essv6973545, essv6910664, essv6838264, essv6942525, essv6829563, essv6804899, essv6683352, essv6813703, essv6699465, essv6742599, essv6762207, essv6810773, essv6921995, essv6933960, essv6736447, essv6926210, essv6955184, essv6669979, essv6774012, essv6962547, essv6673532, essv6793945, essv6762208, essv6886435, essv6848038, essv6859947, essv6840566, essv6922394, essv6704374, essv6829562, essv6951208, essv6849364
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM086, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM077, SSM076, SSM022, SSM010, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM063
Known GenesEFCAB12, IFT122, MBD4, RPL32P3, SNORA7B
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)esv2725901
Frequency
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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