A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614690



Internal ID7001583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116213748..116216731hg38UCSC Ensembl
Innerchr7:116213748..116216731hg38UCSC Ensembl
Outerchr7:116213440..116216988hg38UCSC Ensembl
chr7:115853802..115856785hg19UCSC Ensembl
Innerchr7:115853802..115856785hg19UCSC Ensembl
Outerchr7:115853494..115857042hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg382984
hg192984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12933796, essv12933798, essv12933794, essv12933795, essv12933800, essv12933797, essv12933791, essv12933793, essv12933799, essv12933792
SamplesNA19700, NA19374, NA19448, NA19307, NA19404, HG03270, NA19403, NA19347, HG02144, NA19468
Known GenesTES
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614690
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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