A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5865603



Internal ID8881836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:173935931..173938726hg38UCSC Ensembl
Outerchr2:173935861..173938807hg38UCSC Ensembl
Innerchr2:174800659..174803454hg19UCSC Ensembl
Outerchr2:174800589..174803535hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382947
hg192947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673963
Supporting Variants
SamplesHG00331
Known GenesSP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5865603
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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