A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740276



Internal ID9974618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85399134..86284474hg38UCSC Ensembl
OuterchrX:84654139..85539477hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38885341
hg19885339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737350, essv6878978, essv6795200, essv6911855, essv6754950, essv6948338, essv6667847, essv6856001, essv6866222, essv6856002, essv6975730, essv6762939, essv6757742, essv6903874, essv6829686, essv6908125, essv6849961, essv6969949, essv6719946, essv6671903, essv6811703, essv6919406, essv6690949, essv6705535, essv6727623, essv6708871, essv6734701, essv6775054, essv6818807, essv6799777, essv6765323, essv6957898, essv6927287, essv6873160, essv6802953, essv6952450, essv6731373, essv6740419, essv6791070, essv6931014, essv6965461, essv6680898, essv6675709, essv6861482, essv6731374, essv6881801, essv6706920, essv6749130
SamplesSSM010, SSM086, SSM006, SSM036, SSM091, SSM033, SSM040, SSM078, SSM088, SSM089, SSM031, SSM025, SSM020, SSM071, SSM001, SSM024, SSM094, SSM050, SSM041, SSM062, SSM093, SSM056, SSM017, SSM009, SSM066, SSM028, SSM029, SSM030, SSM047, SSM073, SSM002, SSM063, SSM087, SSM046, SSM019, SSM052, SSM044, SSM004, SSM015, SSM026, SSM014, SSM049, SSM076, SSM058, SSM059, SSM070
Known GenesCHM, DACH2
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)esv2740276
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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