A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850007



Internal ID10248488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:138907995..138908139hg38UCSC Ensembl
OuterchrX:137990157..137990301hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740505, esv2740507
Supporting Variants
SamplesSSM086
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)essv6850007
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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