A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10466350



Internal ID4402065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36569300..36576249hg38UCSC Ensembl
Innerchr2:36569322..36576228hg38UCSC Ensembl
Outerchr2:36569279..36576271hg38UCSC Ensembl
chr2:36796443..36803392hg19UCSC Ensembl
Innerchr2:36796465..36803371hg19UCSC Ensembl
Outerchr2:36796422..36803414hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg386950
hg196950
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590394
Supporting Variants
SamplesHG03919
Known GenesFEZ2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10466350
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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