A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739498



Internal ID3289994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:636477..636823hg38UCSC Ensembl
OuterchrX:597212..597558hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712283, essv6690874, essv6778673, essv6751936
SamplesSSM036, SSM042, SSM057, SSM067
Known GenesSHOX
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)esv2739498
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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