A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672207



Internal ID9938312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108005724..108091198hg38UCSC Ensembl
Outerchr12:108005687..108091248hg38UCSC Ensembl
Innerchr12:108399501..108484975hg19UCSC Ensembl
Outerchr12:108399464..108485025hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3885562
hg1985562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6331498
SamplesNA12348
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672207
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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