A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1301e201



Internal ID22760659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1442590..1444258hg38UCSC Ensembl
chrX:1561483..1563151hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381669
hg191669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2739713, esv2739711
SamplesSSM008, SSM027, SSM064, SSM079, SSM065, SSM087, SSM097, SSM009, SSM093, SSM050, SSM074, SSM002, SSM058, SSM092, SSM021, SSM061, SSM029, SSM062, SSM026, SSM017, SSM031, SSM001, SSM086, SSM033, SSM006, SSM007, SSM078, SSM053, SSM077, SSM076, SSM010, SSM043, SSM052, SSM056, SSM030, SSM063, SSM012
Known GenesASMTL
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)dgv1301e201
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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