A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733295



Internal ID9967618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12939480..12939923hg38UCSC Ensembl
Outerchr10:12981480..12981923hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727999, essv6850643, essv6939976
SamplesSSM046, SSM086, SSM022
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)esv2733295
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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