A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5960930



Internal ID9680650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127940492..127944395hg38UCSC Ensembl
Outerchr12:127940335..127944548hg38UCSC Ensembl
Innerchr12:128425037..128428940hg19UCSC Ensembl
Outerchr12:128424880..128429093hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg384214
hg194214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658732
Supporting Variants
SamplesNA19431
Known GenesLINC00507
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5960930
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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