A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744933



Internal ID10325903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:95030131..95056947hg38UCSC Ensembl
Outerchr11:94763295..94790111hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3826817
hg1926817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812156, essv6743958, essv6716708, essv6806305, essv6894574, essv6851037, essv6870662, essv6768435, essv6706134, essv6787672, essv6931744, essv6976997, essv6842348, essv6763332, essv6924239, essv6720606, essv6737838, essv6737676, essv6904834, essv6795945, essv6938318, essv6838544, essv6749615, essv6712912, essv6732040, essv6771974, essv6873607, essv6677729, essv6834806, essv6959125, essv6970540, essv6695460, essv6823550, essv6845893, essv6709419, essv6857067, essv6804976, essv6897591, essv6927849, essv6728248, essv6879424, essv6970714, essv6685004, essv6819590, essv6953136, essv6887941, essv6746777, essv6867026, essv6691520, essv6920068, essv6758169, essv6791770, essv6809300, essv6779379, essv6948998, essv6912512, essv6760908, essv6688212, essv6916048, essv6862277, essv6715820, essv6698696, essv6908085, essv6803433, essv6752506, essv6740992, essv6965647, essv6771154, essv6783491, essv6908771, essv6900577, essv6834254, essv6891196, essv6755471
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM067, SSM044, SSM001, SSM014, SSM086, SSM085, SSM068, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM037, SSM076, SSM010, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, 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)esv2744933
Frequency
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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