A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6067268



Internal ID9796537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128046645..128047644hg38UCSC Ensembl
chr2:128804219..128805218hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2668034
Supporting Variants
SamplesNA19818
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6067268
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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