A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672432



Internal ID9938537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:110790850..110792278hg38UCSC Ensembl
chr7:110430906..110432334hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381429
hg191429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5854670, essv6548468, essv5988582, essv6259135, essv5506976
SamplesNA19190, NA18510, NA19818, NA19472, NA18487
Known GenesIMMP2L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672432
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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