A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2735322

Internal ID9969652
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148375750..148379294hg38UCSC Ensembl
Outerchr7:148072842..148076386hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919269, essv6762873, essv6798777, essv6795060, essv6681621, essv6837800, essv6757646, essv6705393, essv6890549, essv6737256, essv6884515, essv6719807, essv6765251, essv6858520, essv6778591, essv6743434, essv6734615, essv6723615, essv6749021, essv6932051, essv6930849, essv6764198, essv6740321, essv6727502, essv6904073, essv6811629, essv6731244, essv6731586, essv6805762, essv6849738, essv6923443, essv6948210, essv6943872, essv6900012, essv6760322, essv6782591, essv6799270, essv6927161, essv6680755, essv6751889, essv6878895, essv6802859, essv6701496, essv6814678, essv6881716, essv6893891, essv6684336, essv6790909, essv6911699, essv6808725, essv6667154, essv6915400, essv6870092, essv6826804, essv6866067, essv6687584, essv6845272, essv6671693, essv6676956, essv6828743, essv6818672, essv6715894, essv6855794, essv6786806, essv6667761, essv6822796, essv6939414, essv6708757, essv6830540, essv6873082, essv6712207, essv6887324, essv6907982, essv6891132, essv6834139, essv6975458, essv6964439, essv6935133
SamplesSSM010, SSM022, SSM007, SSM013, SSM053, SSM082, SSM086, SSM091, SSM033, SSM061, SSM042, SSM040, SSM078, SSM043, SSM089, SSM090, SSM031, SSM035, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM034, SSM063, SSM087, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM059, SSM081, SSM070, SSM080
Known GenesCNTNAP2
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2735322
Sample Size96
Observed Gain0
Observed Loss78
Observed Complex0

Hosted by The Centre for Applied Genomics
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