A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10846407



Internal ID397812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216513499..216515162hg38UCSC Ensembl
Innerchr2:216513499..216515162hg38UCSC Ensembl
Outerchr2:216513342..216515316hg38UCSC Ensembl
chr2:217378222..217379885hg19UCSC Ensembl
Innerchr2:217378222..217379885hg19UCSC Ensembl
Outerchr2:217378065..217380039hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381664
hg191664
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594293
Supporting Variants
SamplesHG00117
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10846407
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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