A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675526



Internal ID9941631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212117403..212117597hg38UCSC Ensembl
Outerchr1:212117366..212117647hg38UCSC Ensembl
Innerchr1:212290745..212290939hg19UCSC Ensembl
Outerchr1:212290708..212290989hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5980197, essv6508580
SamplesNA19707, NA19440
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675526
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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