A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733853



Internal ID10317489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2492023..2494324hg38UCSC Ensembl
Outerchr7:2531657..2533958hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805596, essv6737121, essv6830356, essv6754699, essv6903901, essv6680580, essv6930663, essv6957358, essv6782424, essv6822626, essv6915238, essv6797309, essv6841441, essv6901696, essv6837636, essv6774767, essv6757528, essv6899840, essv6943661, essv6698046, essv6919064, essv6723444, essv6923253, essv6727306, essv6975145, essv6690660, essv6790716, essv6963006, essv6743312, essv6734481, essv6878746, essv6964055, essv6694393, essv6799068, essv6849414, essv6889610, essv6911539, essv6934960, essv6715733, essv6730209, essv6872921, essv6833962, essv6896893, essv6865807, essv6869922, essv6893701, essv6969590, essv6746082, essv6748897, essv6875891, essv6802708, essv6930351, essv6939227, essv6948011, essv6767695, essv6705212, essv6814512, essv6884378
SamplesSSM100, SSM059, SSM036, SSM083, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM038, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM002, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM018, SSM029, SSM026, SSM089, SSM017, SSM003, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM037, SSM077, SSM022, SSM091, SSM055, SSM070, SSM095, SSM004, SSM099, SSM043, SSM098, SSM049, SSM056, SSM012
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)esv2733853
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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