A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739859



Internal ID10323495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2464070..2464791hg38UCSC Ensembl
OuterchrX:2382111..2382832hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805814, essv6672154, essv6873144, essv6923538, essv6734670, essv6964504, essv6859253, essv6767906, essv6671844, essv6754913, essv6927254
SamplesSSM027, SSM011, SSM064, SSM074, SSM058, SSM018, SSM019, SSM031, SSM001, SSM091, SSM049
Known GenesDHRSX
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)esv2739859
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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