A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12944603



Internal ID3679373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:119578335..119593796hg38UCSC Ensembl
Innerchr7:119578341..119593791hg38UCSC Ensembl
Outerchr7:119578330..119593802hg38UCSC Ensembl
chr7:119218389..119233850hg19UCSC Ensembl
Innerchr7:119218395..119233845hg19UCSC Ensembl
Outerchr7:119218384..119233856hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3815462
hg1915462
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614770
Supporting Variants
SamplesHG03280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12944603
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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