A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739496



Internal ID10323132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:91209412..91209797hg38UCSC Ensembl
Outerchr10:92969169..92969554hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6823358, essv6958791, essv6716502, essv6787473, essv6882123, essv6891027, essv6866791, essv6908589, essv6894413, essv6862050, essv6884900, essv6879297, essv6863431, essv6827418, essv6948786, essv6705964, essv6924049, essv6944609, essv6870526, essv6695257, essv6873477, essv6677549, essv6691364, essv6965325, essv6681327, essv6799920, essv6900426, essv6795744, essv6838351, essv6688063, essv6806175, essv6856769, essv6976640, essv6931533, essv6831041, essv6783279, essv6850747, essv6698561, essv6672715, essv6728062, essv6887793, essv6812022, essv6819378, essv6809171, essv6684849, essv6720414, essv6702159, essv6712763
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM093, SSM074, SSM042, SSM088, SSM023, SSM090, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM033, SSM068, SSM081, SSM040, SSM072, SSM020, SSM078, SSM080, SSM037, SSM076, SSM091, SSM095, SSM034, SSM043, SSM098
Known GenesPCGF5
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)esv2739496
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer