A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734687



Internal ID9969016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76456613..77002267hg38UCSC Ensembl
Outerchr7:76085930..76631584hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38545655
hg19545655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6667719, essv6878837, essv6957516, essv6893806, essv6794974, essv6855673, essv6811548, essv6731173, essv6903997, essv6771103, essv6930776, essv6778503, essv6865948, essv6802789, essv6676867, essv6890456, essv6794975, essv6767783, essv6907882, essv6798120, essv6948114, essv6837727, essv6676865, essv6676864, essv6952219, essv6849608, essv6915321, essv6896969, essv6734563, essv6830458, essv6969711, essv6935060, essv6681021, essv6676868, essv6919164, essv6705309, essv6964213, essv6849611, essv6805681, essv6808649, essv6975313, essv6737189, essv6786720, essv6730876, essv6782503, essv6790825, essv6826705, essv6899935, essv6826704, essv6919165, essv6841519, essv6778504, essv6837726, essv6943781, essv6727417, essv6671583, essv6857643, essv6973595, essv6969710, essv6730865, essv6927079, essv6727419, essv6694523, essv6837725, essv6751830, essv6694525, essv6767784, essv6930774, essv6723536, essv6799181, essv6737190
SamplesSSM065, SSM007, SSM027, SSM013, SSM086, SSM084, SSM099, SSM040, SSM089, SSM064, SSM031, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM024, SSM045, SSM067, SSM083, SSM050, SSM097, SSM005, SSM093, SSM100, SSM017, SSM009, SSM011, SSM028, SSM029, SSM030, SSM047, SSM073, SSM069, SSM021, SSM037, SSM087, SSM046, SSM019, SSM023, SSM068, SSM074, SSM075, SSM026, SSM014, SSM049, SSM098, SSM076, SSM081, SSM070, SSM080
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100133091, POMZP3, UPK3B
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)esv2734687
Frequency
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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