A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720771



Internal ID9955067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130674635..131281381hg38UCSC Ensembl
Outerchr2:131432208..132038954hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38606747
hg19606747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv616e201
Supporting Variantsessv6679552, essv6753806, essv6804714, essv6950954, essv6824487, essv6955403, essv6718527, essv6942238, essv6764423, essv6914308, essv6813497, essv6880700, essv6704193, essv6733748, essv6973046, essv6832946, essv6756808, essv6689626, essv6819520, essv6933725, essv6793707, essv6698142, essv6906495, essv6942237, essv6733747, essv6962160, essv6886261, essv6789573, essv6726225, essv6729990, essv6953350, essv6769917, essv6672099, essv6736272
SamplesSSM059, SSM036, SSM071, SSM027, SSM046, SSM065, SSM050, SSM074, SSM002, SSM023, SSM058, SSM021, SSM047, SSM029, SSM096, SSM026, SSM094, SSM044, SSM014, SSM033, SSM006, SSM040, SSM082, SSM016, SSM005, SSM077, SSM010, SSM070, SSM025, SSM004, SSM049, SSM063
Known GenesAMER3, ARHGEF4, CYP4F30P, 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)esv2720771
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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