A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740509



Internal ID10324145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:139075029..139076277hg38UCSC Ensembl
OuterchrX:138157191..138158439hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg381249
hg191249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837942, essv6818830, essv6964598, essv6850008, essv6671934, essv6908157, essv6859843, essv6757762, essv6856039, essv6957938
SamplesSSM059, SSM083, SSM027, SSM011, SSM087, SSM026, SSM031, SSM014, SSM086, SSM078
Known GenesFGF13
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)esv2740509
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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