A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5997164



Internal ID9337470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95065072..95071210hg38UCSC Ensembl
Outerchr2:95064915..95071370hg38UCSC Ensembl
Innerchr2:95730817..95736955hg19UCSC Ensembl
Outerchr2:95730660..95737115hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg386456
hg196456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671529
Supporting Variants
SamplesNA18535
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5997164
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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