A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10565651



Internal ID567467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84452464..84456516hg38UCSC Ensembl
Innerchr2:84452501..84456479hg38UCSC Ensembl
Outerchr2:84452427..84456553hg38UCSC Ensembl
chr2:84679588..84683640hg19UCSC Ensembl
Innerchr2:84679625..84683603hg19UCSC Ensembl
Outerchr2:84679551..84683677hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg384053
hg194053
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591513
Supporting Variants
SamplesHG02820
Known GenesSUCLG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10565651
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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