A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657169



Internal ID9576588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92517344..92518793hg38UCSC Ensembl
chr7:92146658..92148107hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6419831
SamplesNA19920
Known GenesPEX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657169
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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