A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6142085



Internal ID9826312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5509849..5510395hg38UCSC Ensembl
Outerchr2:5509810..5510452hg38UCSC Ensembl
Innerchr2:5649981..5650527hg19UCSC Ensembl
Outerchr2:5649942..5650584hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674752
Supporting Variants
SamplesNA20296
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6142085
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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