A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590542



Internal ID6977871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44045141..44076222hg38UCSC Ensembl
Innerchr2:44045141..44076222hg38UCSC Ensembl
Outerchr2:44044641..44076722hg38UCSC Ensembl
chr2:44272280..44303361hg19UCSC Ensembl
Innerchr2:44272280..44303361hg19UCSC Ensembl
Outerchr2:44271780..44303861hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3831082
hg1931082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10482102
SamplesHG04118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590542
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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