A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725016



Internal ID10308652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232700680..232701278hg38UCSC Ensembl
Outerchr1:232836426..232837024hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972688, essv6961847, essv6669256, essv6892492, essv6859419, essv6813326, essv6821368, essv6789357, essv6921926, essv6810479, essv6902720, essv6845576, essv6889180, essv6667003, essv6886131, essv6955043, essv6906295, essv6847324, essv6807539, essv6686317, essv6825179, essv6707426, essv6880571, essv6864189
SamplesSSM027, SSM075, SSM011, SSM079, SSM097, SSM013, SSM088, SSM041, SSM018, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM031, SSM014, SSM086, SSM080, SSM077, SSM076, SSM070, SSM098, SSM030
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)esv2725016
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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