A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10791109



Internal ID792925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186469807..186490054hg38UCSC Ensembl
Innerchr2:186469957..186489904hg38UCSC Ensembl
Outerchr2:186469657..186490204hg38UCSC Ensembl
chr2:187334534..187354781hg19UCSC Ensembl
Innerchr2:187334684..187354631hg19UCSC Ensembl
Outerchr2:187334384..187354931hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3820248
hg1920248
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593670
Supporting Variants
SamplesHG00452
Known GenesZC3H15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10791109
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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