A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670994



Internal ID2904081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39150822..39161133hg38UCSC Ensembl
chr7:39190421..39200732hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3810312
hg1910312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6345069
SamplesNA19921
Known GenesPOU6F2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670994
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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