A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740177



Internal ID9974519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54913652..54914537hg38UCSC Ensembl
OuterchrX:54940085..54940970hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849934, essv6732532, essv6861465, essv6834242, essv6757729, essv6911837, essv6964555, essv6765317, essv6680890, essv6751986, essv6775040, essv6975703, essv6671884, essv6826921, essv6805831, essv6740406, essv6677052, essv6855977, essv6957868, essv6866207, essv6743497, essv6799417, essv6706821
SamplesSSM059, SSM027, SSM087, SSM074, SSM088, SSM057, SSM029, SSM026, SSM089, SSM032, SSM031, SSM086, SSM033, SSM066, SSM006, SSM072, SSM082, SSM007, SSM015, SSM053, SSM080, SSM052, SSM063
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)esv2740177
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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