A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5816546



Internal ID8793949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99517862..99523173hg38UCSC Ensembl
Outerchr7:99517825..99523223hg38UCSC Ensembl
Innerchr7:99115485..99120796hg19UCSC Ensembl
Outerchr7:99115448..99120846hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385399
hg195399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675875
Supporting Variants
SamplesNA20819
Known GenesZKSCAN5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5816546
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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