A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6263227



Internal ID9030574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150060211..150061645hg38UCSC Ensembl
Outerchr2:150060174..150061695hg38UCSC Ensembl
Innerchr2:150916725..150918159hg19UCSC Ensembl
Outerchr2:150916688..150918209hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381522
hg191522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666521
Supporting Variants
SamplesHG00656
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6263227
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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