A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6829865



Internal ID10007154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130405848..130406175hg38UCSC Ensembl
OuterchrX:129539822..129540149hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740470
Supporting Variants
SamplesSSM010
Known GenesRBMX2
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)essv6829865
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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