A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741102



Internal ID10295218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1624659..1624914hg38UCSC Ensembl
OuterchrX:1743552..1743807hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1306e201
Supporting Variantsessv6712306
SamplesSSM042
Known GenesASMT
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)esv2741102
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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