A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740505



Internal ID10324141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:138907741..138908351hg38UCSC Ensembl
OuterchrX:137989903..137990513hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765345, essv6915533, essv6856038, essv6818829, essv6732865, essv6829898, essv6850007, essv6876138
SamplesSSM087, SSM092, SSM086, SSM007, SSM078, SSM016, SSM010, SSM063
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)esv2740505
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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