A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6484504



Internal ID9046858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164626912..164630009hg38UCSC Ensembl
Outerchr2:164626755..164630162hg38UCSC Ensembl
Innerchr2:165483422..165486519hg19UCSC Ensembl
Outerchr2:165483265..165486672hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383408
hg193408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664919
Supporting Variants
SamplesHG00692
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6484504
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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