A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726841



Internal ID9961149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2396103..2396710hg38UCSC Ensembl
Outerchr4:2397830..2398437hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv805e201
Supporting Variantsessv6903189, essv6704471, essv6670131, essv6938402, essv6748310, essv6845709, essv6864849, essv6777623, essv6955941, essv6817440, essv6674332, essv6880958, essv6906858, essv6802149, essv6942657, essv6889633, essv6922506, essv6869251, essv6785785, essv6929845, essv6833244, essv6829654, essv6714958, essv6722699, essv6813801, essv6892956, essv6697504, essv6914579, essv6789896, essv6689902, essv6840679, essv6955990, essv6730317, essv6896345, essv6878171, essv6810843, essv6742669, essv6667242, essv6860072, essv6821832, essv6821864, essv6912929, essv6934068, essv6910758, essv6844467, essv6825762, essv6751150, essv6892955, essv6693569, essv6707892, essv6848178, essv6926303, essv6686739, essv6675915, essv6679869, essv6947226, essv6726547, essv6770252, essv6807955, essv6711289, essv6899185, essv6781630, essv6767062, essv6794060, essv6968724, essv6700418, essv6854336, essv6764630, essv6718827, essv6683437, essv6850176, essv6962719
SamplesSSM100, SSM036, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM028, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM085, SSM068, SSM081, SSM040, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM070, SSM034, SSM004, SSM099, SSM043, SSM098, SSM056, SSM030, SSM063
Known GenesZFYVE28
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)esv2726841
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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