A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5919098



Internal ID8896501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137977946..137979852hg38UCSC Ensembl
Outerchr2:137977575..137980222hg38UCSC Ensembl
Innerchr2:138735516..138737422hg19UCSC Ensembl
Outerchr2:138735145..138737792hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv2671408
Supporting Variants
SamplesHG00628
Known GenesHNMT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5919098
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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