A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740104



Internal ID10323740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40542209..40542418hg38UCSC Ensembl
OuterchrX:40401461..40401670hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892277, essv6771318, essv6701614, essv6855962, essv6900084, essv6775033, essv6919389, essv6911826, essv6767925, essv6680878, essv6751980
SamplesSSM100, SSM064, SSM065, SSM087, SSM039, SSM057, SSM017, SSM033, SSM066, SSM015, SSM012
Known Genes
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)esv2740104
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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