A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739500



Internal ID3289996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:643705..644015hg38UCSC Ensembl
OuterchrX:604440..604750hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719872, essv6948280, essv6975586, essv6671788, essv6723686, essv6731308, essv6884554, essv6849833, essv6705460
SamplesSSM086, SSM040, SSM031, SSM024, SSM045, SSM029, SSM095, SSM047, SSM044
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)esv2739500
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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