A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12908901



Internal ID2910717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99967058..99969085hg38UCSC Ensembl
Innerchr7:99967065..99969079hg38UCSC Ensembl
Outerchr7:99967052..99969092hg38UCSC Ensembl
chr7:99564681..99566708hg19UCSC Ensembl
Innerchr7:99564688..99566702hg19UCSC Ensembl
Outerchr7:99564675..99566715hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382028
hg192028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614287
Supporting Variants
SamplesNA18984
Known GenesAZGP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12908901
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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