A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6964598



Internal ID10071193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:139075845..139076014hg38UCSC Ensembl
OuterchrX:138158007..138158176hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740509, esv2740510
Supporting Variants
SamplesSSM027
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)essv6964598
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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