A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10373665



Internal ID375481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247297392..247354590hg38UCSC Ensembl
chr1:247460694..247517892hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3857199
hg1957199
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589514
Supporting Variants
SamplesNA20859
Known GenesZNF496
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10373665
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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