A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733306



Internal ID9967629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12939515..12939671hg38UCSC Ensembl
Outerchr10:12981515..12981671hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850643, essv6727999
SamplesSSM086, SSM046
Known GenesCCDC3
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)esv2733306
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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