A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740090



Internal ID10323726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:36724966..36725277hg38UCSC Ensembl
OuterchrX:36743039..36743350hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694733, essv6701612, essv6671872, essv6723748, essv6859442, essv6811693, essv6855959, essv6837923, essv6944015, essv6687673, essv6861458
SamplesSSM083, SSM045, SSM011, SSM087, SSM039, SSM088, SSM023, SSM035, SSM031, SSM037, SSM076
Known Genes
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)esv2740090
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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