A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721502



Internal ID10305138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220823417..220823939hg38UCSC Ensembl
Outerchr2:221688137..221688659hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750945, essv6883587, essv6938132, essv6953884, essv6773868, essv6859748, essv6788365, essv6759392, essv6951021, essv6781366, essv6933788, essv6840419, essv6797946, essv6973212, essv6714684, essv6869067, essv6898979, essv6955538, essv6853940, essv6875063, essv6880709, essv6880752
SamplesSSM100, SSM087, SSM009, SSM088, SSM057, SSM092, SSM084, SSM090, SSM021, SSM061, SSM029, SSM026, SSM094, SSM066, SSM068, SSM072, SSM022, SSM095, SSM025, SSM004, SSM043, SSM012
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)esv2721502
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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