A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849913



Internal ID9901717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:31528166..31528239hg38UCSC Ensembl
OuterchrX:31546283..31546356hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740060, esv2740061
Supporting Variants
SamplesSSM086
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)essv6849913
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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