A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740053



Internal ID9974395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:30662744..30662953hg38UCSC Ensembl
OuterchrX:30680861..30681070hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927268
SamplesSSM019
Known GenesGK
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)esv2740053
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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