A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6213481



Internal ID9190884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71492936..71496242hg38UCSC Ensembl
Outerchr12:71492565..71496612hg38UCSC Ensembl
Innerchr12:71886716..71890022hg19UCSC Ensembl
Outerchr12:71886345..71890392hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg384048
hg194048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671769
Supporting Variants
SamplesNA20281
Known GenesLGR5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6213481
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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