A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740455



Internal ID10324091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:126826308..127766257hg38UCSC Ensembl
OuterchrX:125960291..126900238hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38939950
hg19939948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719977, essv6969971, essv6732809, essv6957932, essv6829843, essv6808815, essv6975760, essv6734717, essv6676710, essv6884611, essv6682554, essv6676821
SamplesSSM075, SSM028, SSM029, SSM026, SSM044, SSM001, SSM007, SSM005, SSM010, SSM095, SSM049
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)esv2740455
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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