A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10834619



Internal ID2738924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209348091..209422419hg38UCSC Ensembl
chr2:210212815..210287143hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3874329
hg1974329
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594145
Supporting Variants
SamplesHG02407
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10834619
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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