A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744132



Internal ID10325102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:15596030..15596224hg38UCSC Ensembl
Outerchr11:15617576..15617770hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940149, essv6935945, essv6948897, essv6684922, essv6702258, essv6897743, essv6856934
SamplesSSM024, SSM087, SSM039, SSM021, SSM022, SSM034, 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)esv2744132
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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