A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6952454



Internal ID10060749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:87413736..87444213hg38UCSC Ensembl
OuterchrX:86668739..86699216hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3830478
hg1930478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740290
Supporting Variants
SamplesSSM025
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)essv6952454
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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