A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720774



Internal ID10304410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130705728..131312550hg38UCSC Ensembl
Outerchr2:131463301..132070123hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38606823
hg19606823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv616e201
Supporting Variantsessv6753806, essv6955403, essv6942238, essv6914308, essv6813497, essv6880700, essv6704193, essv6733748, essv6973046, essv6689626, essv6698142, essv6906495, essv6942237, essv6962160, essv6726225, essv6953350, essv6769917, essv6672099
SamplesSSM036, SSM027, SSM046, SSM065, SSM023, SSM058, SSM029, SSM026, SSM094, SSM014, SSM006, SSM040, SSM016, SSM005, SSM077, SSM004, SSM049
Known GenesAMER3, ARHGEF4, FAM168B, GPR148, LOC440910, PLEKHB2, POTEE
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)esv2720774
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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