A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848029



Internal ID3249824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75585242..75586266hg38UCSC Ensembl
Innerchr7:75585267..75586241hg38UCSC Ensembl
Outerchr7:75585217..75586291hg38UCSC Ensembl
chr7:75214560..75215584hg19UCSC Ensembl
Innerchr7:75214585..75215559hg19UCSC Ensembl
Outerchr7:75214535..75215609hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613724
Supporting Variants
SamplesHG02870
Known GenesHIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848029
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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