A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740100



Internal ID10323736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:39776450..39776922hg38UCSC Ensembl
OuterchrX:39635704..39636176hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892266, essv6834238, essv6927272, essv6775032, essv6948328, essv6719927, essv6944018, essv6923559, essv6705514, essv6791048, essv6757718, essv6765312, essv6737330, essv6969933, essv6818791, essv6830646, essv6814768, essv6701613, essv6975690, essv6939533, essv6855961, essv6957854, essv6893991, essv6687675, essv6799413, essv6904200, essv6706754, essv6740399, essv6822901, essv6932784, essv6716025, essv6698238, essv6723751, essv6786948, essv6708855, essv6732421, essv6782737, essv6799576, essv6845381
SamplesSSM059, SSM024, SSM045, SSM079, SSM087, SSM038, SSM039, SSM013, SSM009, SSM050, SSM041, SSM023, SSM028, SSM018, SSM069, SSM029, SSM026, SSM019, SSM035, SSM003, SSM044, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM007, SSM078, SSM077, SSM022, SSM070, SSM043, SSM052, SSM098, SSM063, SSM012
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)esv2740100
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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