A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589499



Internal ID6629788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246959859..247180267hg38UCSC Ensembl
chr1:247123161..247343569hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38220409
hg19220409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10373381
SamplesNA20863
Known GenesC1orf229, ZNF124, ZNF669, ZNF670, ZNF670-ZNF695, ZNF695
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589499
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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