A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6811715



Internal ID9867997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119470503..119470951hg38UCSC Ensembl
OuterchrX:118604466..118604914hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740429
Supporting Variants
SamplesSSM076
Known GenesSLC25A5
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)essv6811715
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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