A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12904478



Internal ID5594726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:97977622..97984367hg38UCSC Ensembl
Innerchr7:97978122..97983867hg38UCSC Ensembl
Outerchr7:97976622..97985367hg38UCSC Ensembl
chr7:97606934..97613679hg19UCSC Ensembl
Innerchr7:97607434..97613179hg19UCSC Ensembl
Outerchr7:97605934..97614679hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg386746
hg196746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614245
Supporting Variants
SamplesNA19030
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12904478
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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