A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12855287



Internal ID5799910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77124908..77131802hg38UCSC Ensembl
Innerchr7:77124932..77131779hg38UCSC Ensembl
Outerchr7:77124885..77131826hg38UCSC Ensembl
chr7:76754225..76761119hg19UCSC Ensembl
Innerchr7:76754249..76761096hg19UCSC Ensembl
Outerchr7:76754202..76761143hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386895
hg196895
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613789
Supporting Variants
SamplesNA19172
Known GenesCCDC146
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12855287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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