A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594346



Internal ID6634622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218640692..218643860hg38UCSC Ensembl
Innerchr2:218640715..218643837hg38UCSC Ensembl
Outerchr2:218640669..218643883hg38UCSC Ensembl
chr2:219505415..219508583hg19UCSC Ensembl
Innerchr2:219505438..219508560hg19UCSC Ensembl
Outerchr2:219505392..219508606hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383169
hg193169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10850880
SamplesNA19794
Known GenesZNF142
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594346
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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