A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732929



Internal ID9967251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11283809..11284618hg38UCSC Ensembl
Outerchr10:11325772..11326581hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771739, essv6970422, essv6779124
SamplesSSM065, SSM028, SSM067
Known GenesCELF2
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)esv2732929
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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