A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12945283



Internal ID2875528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:119651437..119875829hg38UCSC Ensembl
chr7:119291491..119515883hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38224393
hg19224393
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614773
Supporting Variants
SamplesHG02554
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12945283
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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