A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12752223



Internal ID6318715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42096148..42129267hg38UCSC Ensembl
Innerchr7:42096298..42129117hg38UCSC Ensembl
Outerchr7:42095998..42129417hg38UCSC Ensembl
chr7:42135747..42168866hg19UCSC Ensembl
Innerchr7:42135897..42168716hg19UCSC Ensembl
Outerchr7:42135597..42169016hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3833120
hg1933120
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612953
Supporting Variants
SamplesNA19917
Known GenesGLI3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12752223
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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