A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590934



Internal ID6631218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57498276..57680822hg38UCSC Ensembl
chr2:57725411..57907957hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38182547
hg19182547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10517433, essv10517435, essv10517436, essv10517432, essv10517434, essv10517431, essv10517430
SamplesNA19350, NA19067, NA18988, NA19062, NA18617, HG01789, NA18950
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590934
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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