A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594205



Internal ID6981525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212441921..212505394hg38UCSC Ensembl
Innerchr2:212441949..212505367hg38UCSC Ensembl
Outerchr2:212441894..212505422hg38UCSC Ensembl
chr2:213306645..213370118hg19UCSC Ensembl
Innerchr2:213306673..213370091hg19UCSC Ensembl
Outerchr2:213306618..213370146hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3863474
hg1963474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10839614
SamplesHG04093
Known GenesERBB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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