A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594493



Internal ID6634769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225588755..225598602hg38UCSC Ensembl
Innerchr2:225589255..225598102hg38UCSC Ensembl
Outerchr2:225587755..225599602hg38UCSC Ensembl
chr2:226453471..226463318hg19UCSC Ensembl
Innerchr2:226453971..226462818hg19UCSC Ensembl
Outerchr2:226452471..226464318hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg389848
hg199848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10867532, essv10867531, essv10867533
SamplesHG02757, HG03072, NA19099
Known GenesNYAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594493
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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