A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719468



Internal ID10303104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2936547..2936964hg38UCSC Ensembl
Outerchr2:2940319..2940736hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813397, essv6699885, essv6710836, essv6825248, essv6675452, essv6846054, essv6864266, essv6868918, essv6906349
SamplesSSM011, SSM039, SSM042, SSM090, SSM089, SSM032, SSM014, SSM080, SSM077
Known Genes
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)esv2719468
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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