A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2733230

Internal ID9967553
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167249885..167408649hg38UCSC Ensembl
Outerchr6:167663373..167822137hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6680523, essv6826552, essv6723371, essv6786529, essv6734459, essv6751718, essv6939168, essv6855437, essv6930593, essv6715675, essv6929973, essv6861034, essv6943597, essv6704721, essv6760161, essv6963958, essv6796832, essv6767650, essv6711970, essv6934877, essv6694312, essv6872887, essv6698025, essv6826551, essv6889177, essv6957249, essv6679866, essv6887125, essv6794800, essv6796843, essv6943598, essv6782352, essv6957247, essv6786530, essv6918978, essv6957253, essv6837571, essv6957252, essv6903851, essv6869885, essv6770951, essv6711971, essv6865757, essv6969517, essv6694313, essv6740123, essv6947946, essv6760162, essv6845082, essv6963960, essv6687374, essv6869886, essv6869888, essv6774713, essv6923211, essv6731008, essv6805555, essv6770952, essv6934876, essv6814456, essv6751719, essv6805557, essv6957248, essv6731011, essv6731010, essv6855436, essv6799013, essv6881532, essv6915184, essv6969516, essv6690600, essv6855435, essv6975041, essv6805556, essv6841392, essv6887124, essv6802677, essv6887126, essv6671344, essv6794799, essv6729932, essv6818411, essv6911482, essv6814455, essv6715673, essv6746057, essv6957250, essv6708563, essv6875855, essv6765118, essv6694314, essv6964817, essv6899821, essv6767649, essv6903850, essv6729920, essv6952044, essv6907735, essv6727254, essv6811430, essv6790653, essv6687377, essv6715674, essv6881530, essv6774714, essv6943594, essv6737082, essv6679877, essv6676715, essv6757506, essv6899812, essv6694315, essv6734460, essv6676716, essv6845081, essv6719578, essv6923212, essv6684117
SamplesSSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM042, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM024, SSM045, SSM094, SSM083, SSM050, SSM041, SSM077, SSM005, SSM012, SSM100, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM096, SSM023, SSM052, SSM068, SSM044, SSM074, SSM015, SSM026, SSM014, SSM049, SSM018, SSM076, SSM059, SSM070, SSM080
Known GenesTCP10, TTLL2, UNC93A
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2733230
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0

Hosted by The Centre for Applied Genomics
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