A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1307e201



Internal ID22760665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1636810..1642097hg38UCSC Ensembl
chrX:1755703..1760990hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg385288
hg195288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2739763, esv2739755, esv2739758, esv2739760
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM046, SSM011, SSM079, SSM065, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM042, SSM088, SSM041, SSM090, SSM018, SSM062, SSM032, SSM031, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM015, SSM016, SSM080, SSM037, SSM077, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM063, SSM012
Known GenesASMT
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)dgv1307e201
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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