A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740620



Internal ID10324256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152872055..152873165hg38UCSC Ensembl
OuterchrX:152040599..152041709hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856061, essv6765710, essv6814805, essv6975794, essv6837949, essv6791112, essv6850032, essv6964608, essv6701661, essv6732998, essv6749162, essv6952492, essv6830685, essv6935303, essv6870212, essv6716078, essv6957961, essv6727653, essv6859954
SamplesSSM008, SSM083, SSM027, SSM046, SSM011, SSM087, SSM039, SSM090, SSM021, SSM029, SSM026, SSM086, SSM081, SSM007, SSM077, SSM070, SSM025, SSM043, SSM056
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)esv2740620
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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