A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5949143



Internal ID8945188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85714151..85717812hg38UCSC Ensembl
chr2:85941274..85944935hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg383662
hg193662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675367
Supporting Variants
SamplesHG00476
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5949143
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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