A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740277



Internal ID9974619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85971346..85971561hg38UCSC Ensembl
OuterchrX:85226350..85226565hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6903874
SamplesSSM002
Known GenesCHM
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)esv2740277
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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