A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739749



Internal ID10323385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1609819..1610386hg38UCSC Ensembl
OuterchrX:1728712..1729279hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814744, essv6802916, essv6975627
SamplesSSM073, SSM029, SSM077
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)esv2739749
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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