A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594069



Internal ID6981390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206585070..206585426hg38UCSC Ensembl
Innerchr2:206585079..206585418hg38UCSC Ensembl
Outerchr2:206585062..206585435hg38UCSC Ensembl
chr2:207449794..207450150hg19UCSC Ensembl
Innerchr2:207449803..207450142hg19UCSC Ensembl
Outerchr2:207449786..207450159hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10828695
SamplesNA19649
Known GenesADAM23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594069
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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