A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732951



Internal ID10316587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11332525..11332663hg38UCSC Ensembl
Outerchr10:11374488..11374662hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38139
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958679, essv6952874, essv6731771, essv6850634
SamplesSSM047, SSM026, SSM086, SSM025
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)esv2732951
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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