A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12928386



Internal ID4863142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:111124657..111260511hg38UCSC Ensembl
chr7:110764713..110900567hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38135855
hg19135855
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614552
Supporting Variants
SamplesNA12286
Known GenesIMMP2L, LRRN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12928386
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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