A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720497



Internal ID9954793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:107658847..107662658hg38UCSC Ensembl
Outerchr2:108275303..108279114hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg383812
hg193812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877919, essv6797835, essv6902862, essv6753780, essv6726199, essv6840329, essv6821525, essv6836533, essv6759324, essv6751786, essv6710938, essv6686449, essv6733723, essv6683133, essv6689600, essv6853770, essv6829329
SamplesSSM036, SSM008, SSM083, SSM046, SSM079, SSM087, SSM013, SSM093, SSM042, SSM058, SSM084, SSM061, SSM035, SSM081, SSM072, SSM034, SSM049
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)esv2720497
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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