A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740278



Internal ID9974620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:86282628..86283126hg38UCSC Ensembl
OuterchrX:85537631..85538129hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911855, essv6881801, essv6849961, essv6811703, essv6719946, essv6727623, essv6878978, essv6749130, essv6908125, essv6948338, essv6731374, essv6708871, essv6757742, essv6754950, essv6931014, essv6775054, essv6969949, essv6829686, essv6680898, essv6799777, essv6675709, essv6856002, essv6927287, essv6861482, essv6919406, essv6734701, essv6818807, essv6740419, essv6737350, essv6667847, essv6791070, essv6762939, essv6965461, essv6795200, essv6705535, essv6975730, essv6765323, essv6957898, essv6690949, essv6671903, essv6802953, essv6873160, essv6706920, essv6866222, essv6952450
SamplesSSM059, SSM036, SSM071, SSM024, SSM046, SSM087, SSM009, SSM073, SSM093, SSM050, SSM088, SSM041, SSM058, SSM028, SSM047, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM031, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM040, SSM020, SSM015, SSM078, SSM076, SSM010, SSM091, SSM070, SSM025, SSM004, SSM052, SSM049, SSM056, SSM030, SSM063
Known GenesDACH2
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)esv2740278
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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