A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740061



Internal ID10323697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:31528157..31528255hg38UCSC Ensembl
OuterchrX:31546274..31546372hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964542, essv6957847, essv6849913, essv6855953
SamplesSSM027, SSM087, SSM026, SSM086
Known GenesDMD
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)esv2740061
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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