A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747329



Internal ID10328299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:44106039..44111504hg38UCSC Ensembl
Outerchr13:44680175..44685640hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg385466
hg195466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970980, essv6873795, essv6835943
SamplesSSM028, SSM010, SSM091
Known GenesSMIM2-AS1
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)esv2747329
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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