A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10533616



Internal ID3835699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68127855..68128603hg38UCSC Ensembl
Innerchr2:68127905..68128553hg38UCSC Ensembl
Outerchr2:68127805..68128653hg38UCSC Ensembl
chr2:68354987..68355735hg19UCSC Ensembl
Innerchr2:68355037..68355685hg19UCSC Ensembl
Outerchr2:68354937..68355785hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591164
Supporting Variants
SamplesHG03472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10533616
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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