A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10763212



Internal ID765028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174073939..174079389hg38UCSC Ensembl
chr2:174938667..174944117hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385451
hg195451
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593399
Supporting Variants
SamplesNA18498
Known GenesOLA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10763212
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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