A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13013861



Internal ID3015677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152367236..152554134hg38UCSC Ensembl
Innerchr7:152367386..152553984hg38UCSC Ensembl
Outerchr7:152367086..152554284hg38UCSC Ensembl
chr7:152064321..152251219hg19UCSC Ensembl
Innerchr7:152064471..152251069hg19UCSC Ensembl
Outerchr7:152064171..152251369hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38186899
hg19186899
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615503
Supporting Variants
SamplesHG03882
Known GenesFABP5P3, KMT2C, LINC01003
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13013861
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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