A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740281



Internal ID10323917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:86834553..86835427hg38UCSC Ensembl
OuterchrX:86089556..86090430hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38875
hg19875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856003, essv6751997, essv6708872, essv6829697
SamplesSSM087, SSM041, SSM057, SSM010
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)esv2740281
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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