A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740507



Internal ID10324143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:138907995..138908141hg38UCSC Ensembl
OuterchrX:137990157..137990303hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915533, essv6856038, essv6850007
SamplesSSM087, SSM086, SSM016
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)esv2740507
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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