A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10711169



Internal ID712985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151547516..151552397hg38UCSC Ensembl
Innerchr2:151547558..151552355hg38UCSC Ensembl
Outerchr2:151547474..151552439hg38UCSC Ensembl
chr2:152404030..152408911hg19UCSC Ensembl
Innerchr2:152404072..152408869hg19UCSC Ensembl
Outerchr2:152403988..152408953hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg384882
hg194882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592921
Supporting Variants
SamplesNA19750
Known GenesNEB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10711169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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