A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743003



Internal ID9977287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148547002..148547497hg38UCSC Ensembl
OuterchrX:147628523..147629018hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1327e201
Supporting Variantsessv6935299
SamplesSSM021
Known GenesAFF2
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)esv2743003
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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