A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594779



Internal ID6982099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239292661..239294765hg38UCSC Ensembl
Innerchr2:239292667..239294759hg38UCSC Ensembl
Outerchr2:239292655..239294771hg38UCSC Ensembl
chr2:240214356..240216460hg19UCSC Ensembl
Innerchr2:240214362..240216454hg19UCSC Ensembl
Outerchr2:240214350..240216466hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382105
hg192105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10889886
SamplesNA19360
Known GenesHDAC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594779
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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