A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594272



Internal ID6634548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215037824..215039770hg38UCSC Ensembl
Innerchr2:215037838..215039757hg38UCSC Ensembl
Outerchr2:215037811..215039784hg38UCSC Ensembl
chr2:215902548..215904494hg19UCSC Ensembl
Innerchr2:215902562..215904481hg19UCSC Ensembl
Outerchr2:215902535..215904508hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381947
hg191947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10845093
SamplesNA18628
Known GenesABCA12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594272
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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