A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12900964



Internal ID3147799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96348808..96360435hg38UCSC Ensembl
Innerchr7:96348958..96360285hg38UCSC Ensembl
Outerchr7:96348658..96360585hg38UCSC Ensembl
chr7:95978120..95989747hg19UCSC Ensembl
Innerchr7:95978270..95989597hg19UCSC Ensembl
Outerchr7:95977970..95989897hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3811628
hg1911628
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614210
Supporting Variants
SamplesHG02772
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12900964
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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