A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10451021



Internal ID452837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33225912..33229889hg38UCSC Ensembl
Innerchr2:33225919..33229883hg38UCSC Ensembl
Outerchr2:33225906..33229896hg38UCSC Ensembl
chr2:33450979..33454956hg19UCSC Ensembl
Innerchr2:33450986..33454950hg19UCSC Ensembl
Outerchr2:33450973..33454963hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383978
hg193978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590278
Supporting Variants
SamplesHG02594
Known GenesLTBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10451021
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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