A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739903



Internal ID9974244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3688091..3688616hg38UCSC Ensembl
OuterchrX:3606132..3606657hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965095, essv6849881, essv6943993, essv6705496, essv6667815, essv6884576, essv6845361, essv6930976, essv6932629, essv6671847, essv6682166, essv6762916, essv6782719, essv6690909, essv6969911, essv6855921, essv6701589, essv6732221, essv6716003, essv6829320, essv6818767, essv6887401, essv6680860, essv6908078, essv6719905, essv6830633, essv6892021, essv6870160, essv6746273, essv6786928
SamplesSSM036, SSM087, SSM039, SSM023, SSM028, SSM090, SSM069, SSM096, SSM062, SSM003, SSM031, SSM044, SSM014, SSM086, SSM033, SSM085, SSM068, SSM081, SSM040, SSM020, SSM007, SSM078, SSM005, SSM010, SSM055, SSM095, SSM004, SSM043, SSM030, SSM012
Known GenesPRKX
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)esv2739903
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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