A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10695749



Internal ID461728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144469138..144482314hg38UCSC Ensembl
Innerchr2:144469138..144482314hg38UCSC Ensembl
Outerchr2:144468638..144482814hg38UCSC Ensembl
chr2:145226705..145239881hg19UCSC Ensembl
Innerchr2:145226705..145239881hg19UCSC Ensembl
Outerchr2:145226205..145240381hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3813177
hg1913177
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592770
Supporting Variants
SamplesHG00146
Known GenesZEB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10695749
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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