A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10427030



Internal ID2803204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21181244..21193455hg38UCSC Ensembl
Innerchr2:21181270..21193430hg38UCSC Ensembl
Outerchr2:21181219..21193481hg38UCSC Ensembl
chr2:21404116..21416327hg19UCSC Ensembl
Innerchr2:21404142..21416302hg19UCSC Ensembl
Outerchr2:21404091..21416353hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3812212
hg1912212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590009
Supporting Variants
SamplesHG02477
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10427030
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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