A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849960



Internal ID10248445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85088787..85088856hg38UCSC Ensembl
OuterchrX:84343793..84343862hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740271, esv2740270
Supporting Variants
SamplesSSM086
Known GenesAPOOL
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)essv6849960
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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