A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740319



Internal ID10323955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:90323298..90325358hg38UCSC Ensembl
OuterchrX:89578297..89580357hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg382061
hg192061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782761, essv6866226, essv6931020, essv6802958, essv6911858, essv6818811, essv6870190, essv6734705, essv6727630, essv6694755, essv6708883, essv6935279, essv6765329, essv6732710, essv6859697, essv6799435, essv6775056, essv6719959
SamplesSSM046, SSM011, SSM073, SSM041, SSM090, SSM021, SSM089, SSM044, SSM066, SSM068, SSM072, SSM020, SSM007, SSM015, SSM078, SSM037, SSM049, SSM063
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)esv2740319
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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