A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725870



Internal ID10309506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126534612..126535362hg38UCSC Ensembl
Outerchr3:126253455..126254205hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38751
hg19751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6718723, essv6886430, essv6726438, essv6686653, essv6675811, essv6711191, essv6848034, essv6689812, essv6789790, essv6699432
SamplesSSM036, SSM046, SSM042, SSM096, SSM035, SSM032, SSM044, SSM086, SSM006, SSM070
Known GenesCHST13
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)esv2725870
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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