A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931030



Internal ID10041943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:118494791..118495198hg38UCSC Ensembl
OuterchrX:117628754..117629161hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740422
Supporting Variants
SamplesSSM020
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)essv6931030
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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