A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673039



Internal ID9939144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:111046520..111071918hg38UCSC Ensembl
chr7:110686576..110711974hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3825399
hg1925399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6061679
SamplesNA18539
Known GenesIMMP2L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673039
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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