A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734447



Internal ID9968774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55664175..56422045hg38UCSC Ensembl
Outerchr7:55731868..56489738hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38757871
hg19757871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975256, essv6893756, essv6896934, essv6865888, essv6855623, essv6765178, essv6680643, essv6667703, essv6855624, essv6687462, essv6814562, essv6687461, essv6887205, essv6737163, essv6734536, essv6907831, essv6790774, essv6723495, essv6948073, essv6943723, essv6715781, essv6808622, essv6899897, essv6849528, essv6751803, essv6930862, essv6676824, essv6957455, essv6782468, essv6869968, essv6763120, essv6694468, essv6881614, essv6811504, essv6754752, essv6763109, essv6814561, essv6786677, essv6837685, essv6893758, essv6748938, essv6964159, essv6763098, essv6698083, essv6881613, essv6712091, essv6684227, essv6799126, essv6887204, essv6907830, essv6811505, essv6790775, essv6818527, essv6708652, essv6861175, essv6837686, essv6964160, essv6778461, essv6701366, essv6827821, essv6684225, essv6975259, essv6857087, essv6975257, essv6690707, essv6684226, essv6861174, essv6826661, essv6865889, essv6930724, essv6727366, essv6671515, essv6890055, essv6822670, essv6890414, essv6911588, essv6799127, essv6903957, essv6975258, essv6869969, essv6715782, essv6805648, essv6708653, essv6837683, essv6893757, essv6690708, essv6899898, essv6887206, essv6872962, essv6837684, essv6746119
SamplesSSM100, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM050, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM058, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM014, SSM086, SSM068, SSM072, SSM020, SSM015, SSM078, SSM005, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM034, SSM099, SSM043, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesCCT6A, CHCHD2, FKBP9L, GBAS, MRPS17, NUPR1L, PHKG1, PSPH, SEPT14, SNORA15, SUMF2, ZNF713
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)esv2734447
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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