A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720912



Internal ID9955208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143169349..143169964hg38UCSC Ensembl
Outerchr2:143926918..143927533hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6926035, essv6942255, essv6721843, essv6946889, essv6950964, essv6917848, essv6787955, essv6933739, essv6781307, essv6910463, essv6797881, essv6773823, essv6973077, essv6953472, essv6700047, essv6801915, essv6922156, essv6675589, essv6669612, essv6840374, essv6739166, essv6722380, essv6968388, essv6962187
SamplesSSM007, SSM027, SSM084, SSM031, SSM025, SSM072, SSM032, SSM039, SSM024, SSM045, SSM017, SSM009, SSM066, SSM028, SSM029, SSM073, SSM021, SSM019, SSM023, SSM052, SSM068, SSM004, SSM015, SSM018
Known GenesARHGAP15
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)esv2720912
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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