A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667579



Internal ID9586998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76454529..76952588hg38UCSC Ensembl
Outerchr7:76454485..76952634hg38UCSC Ensembl
Innerchr7:76083846..76581905hg19UCSC Ensembl
Outerchr7:76083802..76581951hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38498150
hg19498150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1218e199
Supporting Variantsessv6139994, essv5714977, essv5443977
SamplesNA19248, NA19469, NA12058
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, UPK3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667579
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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