A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12983077



Internal ID5168462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140304131..140310244hg38UCSC Ensembl
Innerchr7:140304131..140310244hg38UCSC Ensembl
Outerchr7:140303961..140310378hg38UCSC Ensembl
chr7:140003931..140010044hg19UCSC Ensembl
Innerchr7:140003931..140010044hg19UCSC Ensembl
Outerchr7:140003761..140010178hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg386114
hg196114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615225
Supporting Variants
SamplesNA18597
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12983077
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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