A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722350



Internal ID10305986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:211111778..211112044hg38UCSC Ensembl
Outerchr1:211285120..211285386hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692944, essv6689404, essv6789318, essv6781041, essv6750009, essv6747918, essv6769690, essv6807513, essv6883380, essv6786054, essv6961802, essv6968105, essv6832737, essv6797619, essv6825146, essv6925840, essv6853480, essv6972643, essv6804542, essv6710738, essv6699775, essv6666991, essv6878187, essv6750737, essv6951673, essv6955000, essv6840118, essv6836338, essv6914124, essv6704000, essv6669215, essv6902693
SamplesSSM036, SSM008, SSM083, SSM027, SSM075, SSM065, SSM087, SSM039, SSM013, SSM009, SSM074, SSM042, SSM057, SSM028, SSM084, SSM029, SSM026, SSM019, SSM031, SSM068, SSM040, SSM072, SSM082, SSM016, SSM080, SSM037, SSM070, SSM095, SSM004, SSM056, SSM030, SSM012
Known GenesKCNH1
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)esv2722350
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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