A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740035



Internal ID10323671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27440283..27444534hg38UCSC Ensembl
OuterchrX:27458400..27462651hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg384252
hg194252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969926, essv6957845, essv6893989, essv6732365, essv6706698, essv6762924, essv6791039, essv6667828, essv6903641, essv6757713, essv6915503, essv6723741, essv6911815, essv6673376, essv6740393, essv6716021, essv6818784, essv6751973, essv6682254, essv6690918, essv6731351, essv6837921, essv6876101
SamplesSSM059, SSM036, SSM083, SSM045, SSM002, SSM057, SSM028, SSM092, SSM047, SSM062, SSM026, SSM001, SSM006, SSM007, SSM015, SSM078, SSM016, SSM005, SSM070, SSM043, SSM052, 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)esv2740035
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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