A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594616



Internal ID6634892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230897830..230899953hg38UCSC Ensembl
Innerchr2:230897980..230899803hg38UCSC Ensembl
Outerchr2:230897680..230900103hg38UCSC Ensembl
chr2:231762545..231764668hg19UCSC Ensembl
Innerchr2:231762695..231764518hg19UCSC Ensembl
Outerchr2:231762395..231764818hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382124
hg192124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10875283, essv10875284
SamplesHG00369, HG01046
Known GenesLOC151484
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594616
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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