A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6419831



Internal ID9397234
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 Flag1
Merged StatusS
Merged Variantsesv2657169
Supporting Variants
SamplesNA19920
Known GenesPEX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6419831
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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