A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740606



Internal ID10324242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:151371409..151371573hg38UCSC Ensembl
OuterchrX:150539881..150540045hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975791, essv6791111, essv6969988, essv6731412
SamplesSSM028, SSM047, SSM029, SSM070
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)esv2740606
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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