A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775031



Internal ID9834324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:31528021..31528478hg38UCSC Ensembl
OuterchrX:31546138..31546595hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740060
Supporting Variants
SamplesSSM066
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)essv6775031
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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