A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740179



Internal ID9974521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54914466..54914755hg38UCSC Ensembl
OuterchrX:54940899..54941188hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855978, essv6881794, essv6671885, essv6890641, essv6834244, essv6964556, essv6866208, essv6861466, essv6849935, essv6957869
SamplesSSM027, SSM087, SSM097, SSM088, SSM026, SSM089, SSM094, SSM031, SSM086, SSM082
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)esv2740179
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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