A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675344



Internal ID9941449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:642667..643529hg38UCSC Ensembl
Outerchr7:642510..643682hg38UCSC Ensembl
Innerchr7:682304..683166hg19UCSC Ensembl
Outerchr7:682147..683319hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381173
hg191173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1177e199
Supporting Variantsessv5665213, essv6021727
SamplesNA19457, NA19713
Known GenesPRKAR1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675344
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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