A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739890



Internal ID10323526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2844565..2844678hg38UCSC Ensembl
OuterchrX:2762606..2762719hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818764, essv6957813, essv6866178, essv6671845
SamplesSSM026, SSM089, SSM031, SSM078
Known GenesGYG2
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)esv2739890
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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