A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10854729



Internal ID3079110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219268250..219269473hg38UCSC Ensembl
Innerchr2:219268260..219269464hg38UCSC Ensembl
Outerchr2:219268241..219269483hg38UCSC Ensembl
chr2:220132972..220134195hg19UCSC Ensembl
Innerchr2:220132982..220134186hg19UCSC Ensembl
Outerchr2:220132963..220134205hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381224
hg191224
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594358
Supporting Variants
SamplesHG02700
Known GenesTUBA4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10854729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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