A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673566



Internal ID9592985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:130269709..130270481hg38UCSC Ensembl
Outerchr7:130269672..130270531hg38UCSC Ensembl
Innerchr7:129909549..129910321hg19UCSC Ensembl
Outerchr7:129909512..129910371hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38860
hg19860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6526941
SamplesNA18989
Known GenesCPA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673566
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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