A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592901



Internal ID6980228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:150803301..150806495hg38UCSC Ensembl
Innerchr2:150803301..150806495hg38UCSC Ensembl
Outerchr2:150803045..150806757hg38UCSC Ensembl
chr2:151659815..151663009hg19UCSC Ensembl
Innerchr2:151659815..151663009hg19UCSC Ensembl
Outerchr2:151659559..151663271hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg383195
hg193195
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10710429, essv10710428, essv10710433, essv10710432, essv10710431, essv10710427, essv10710430
SamplesHG03449, NA19384, NA19707, HG02979, HG01894, HG03419, NA20289
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592901
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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