A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12981249



Internal ID6140783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138450412..138452938hg38UCSC Ensembl
Innerchr7:138450412..138452938hg38UCSC Ensembl
Outerchr7:138450220..138453083hg38UCSC Ensembl
chr7:138135157..138137683hg19UCSC Ensembl
Innerchr7:138135157..138137683hg19UCSC Ensembl
Outerchr7:138134965..138137828hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382527
hg192527
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615192
Supporting Variants
SamplesNA19676
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12981249
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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