A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6266185



Internal ID8896555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4730054..4739569hg38UCSC Ensembl
Outerchr2:4730017..4739619hg38UCSC Ensembl
Innerchr2:4777644..4787159hg19UCSC Ensembl
Outerchr2:4777607..4787209hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg389603
hg199603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658597
Supporting Variants
SamplesHG00344
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6266185
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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