A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12942472



Internal ID5035217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118950799..118958993hg38UCSC Ensembl
Innerchr7:118950799..118958993hg38UCSC Ensembl
Outerchr7:118950624..118959185hg38UCSC Ensembl
chr7:118590853..118599047hg19UCSC Ensembl
Innerchr7:118590853..118599047hg19UCSC Ensembl
Outerchr7:118590678..118599239hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg388195
hg198195
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614750
Supporting Variants
SamplesNA18523
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12942472
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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