A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740011



Internal ID9974353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:24083320..24083783hg38UCSC Ensembl
OuterchrX:24101437..24101900hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754923, essv6667825, essv6751968, essv6760394, essv6775026, essv6957838, essv6716015, essv6884582, essv6746280, essv6757708, essv6855946, essv6892166, essv6765304, essv6939525, essv6680873
SamplesSSM059, SSM087, SSM057, SSM058, SSM061, SSM026, SSM033, SSM066, SSM022, SSM055, SSM095, SSM043, SSM030, SSM063, SSM012
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)esv2740011
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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