A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674345



Internal ID9940450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212908674..212914780hg38UCSC Ensembl
Outerchr1:212908303..212915150hg38UCSC Ensembl
Innerchr1:213082016..213088122hg19UCSC Ensembl
Outerchr1:213081645..213088492hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg386848
hg196848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv97e199
Supporting Variantsessv6091396, essv5831381, essv6366728, essv6035535, essv5886427, essv5505587, essv6415776, essv6294783, essv5935048, essv6543014, essv5515429, essv6503090, essv5432605, essv5679750, essv5440795, essv5776605, essv5793474, essv6060808, essv6354549, essv5907197, essv5615078, essv6169292, essv5815918, essv5737339, essv5480506, essv5562552, essv5519146, essv5796995, essv6071836, essv6404865, essv6285343, essv6284784
SamplesHG01098, HG01052, HG01079, HG01188, HG01066, HG00640, HG00737, HG01051, HG01070, HG01168, HG00736, HG01080, HG01067, HG01072, HG01198, HG01048, HG00731, HG01187, HG01171, HG00732, HG00740, HG01047, HG01102, HG01073, HG01204, HG01075, HG01190, HG00734, HG01174, HG01082, HG01097, HG01191
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674345
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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