A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740679



Internal ID10324315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:20055079..20134730hg38UCSC Ensembl
OuterchrY:22216965..22296616hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3879652
hg1979652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1334e201
Supporting Variantsessv6668675, essv6835804, essv6820795, essv6937231, essv6678801, essv6816266, essv6713875, essv6888736, essv6883015, essv6877390, essv6892050, essv6685868, essv6871430, essv6880173, essv6874380, essv6763963, essv6877389, essv6880174, essv6835805, essv6812901, essv6668676, essv6874381, essv6901334, essv6874382, essv6729257, essv6824591, essv6937232, essv6738558, essv6674703, essv6816263, essv6839587, essv6832228, essv6674702, essv6921256, essv6895507, essv6846666, essv6937230, essv6738556, essv6921258, essv6868333, essv6744672, essv6843451, essv6947052, essv6810094, essv6947063, essv6950115, essv6674704, essv6917054, essv6835803, essv6885722, essv6674705, essv6696624, essv6729258, essv6917055, essv6820794, essv6917053
SamplesSSM100, SSM083, SSM024, SSM075, SSM046, SSM079, SSM097, SSM093, SSM050, SSM042, SSM092, SSM084, SSM090, SSM021, SSM096, SSM062, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM085, SSM081, SSM082, SSM078, SSM016, SSM053, SSM037, SSM077, SSM076, SSM091, SSM095, SSM034, SSM098, SSM030
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)esv2740679
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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