A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739497



Internal ID3289993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:628627..629098hg38UCSC Ensembl
OuterchrX:589362..589833hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964449, essv6904137, essv6849831, essv6715969
SamplesSSM027, SSM013, SSM086, SSM043
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)esv2739497
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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