A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594539



Internal ID6634815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227518451..227519064hg38UCSC Ensembl
Innerchr2:227518453..227519062hg38UCSC Ensembl
Outerchr2:227518449..227519066hg38UCSC Ensembl
chr2:228383167..228383780hg19UCSC Ensembl
Innerchr2:228383169..228383778hg19UCSC Ensembl
Outerchr2:228383165..228383782hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10870476, essv10870473, essv10870474, essv10870475, essv10870477
SamplesNA18964, NA19068, NA18995, NA19064, NA19079
Known GenesAGFG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594539
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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