A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721274



Internal ID10304910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190815478..190816719hg38UCSC Ensembl
Outerchr2:191680204..191681445hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968419, essv6739203, essv6880487, essv6864500, essv6753847, essv6742476, essv6722409, essv6827486, essv6914349, essv6853900, essv6950996, essv6736319, essv6745258, essv6875040, essv6933768, essv6669678, essv6973165, essv6817106, essv6847715, essv6750925, essv6769959, essv6955494
SamplesSSM045, SSM065, SSM087, SSM050, SSM057, SSM058, SSM028, SSM092, SSM021, SSM029, SSM026, SSM089, SSM031, SSM001, SSM086, SSM078, SSM016, SSM053, SSM055, SSM025, SSM052, 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)esv2721274
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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