A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6684427



Internal ID10098620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:30329657..30330485hg38UCSC Ensembl
OuterchrX:30347774..30348602hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740049
Supporting Variants
SamplesSSM034
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)essv6684427
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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