A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594636



Internal ID6981956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231948565..231960172hg38UCSC Ensembl
Innerchr2:231948598..231960139hg38UCSC Ensembl
Outerchr2:231948532..231960205hg38UCSC Ensembl
chr2:232813275..232824882hg19UCSC Ensembl
Innerchr2:232813308..232824849hg19UCSC Ensembl
Outerchr2:232813242..232824915hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811608
hg1911608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10876684, essv10876685
SamplesHG04006, HG03838
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594636
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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