A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12662083



Internal ID2663899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:989832..997859hg38UCSC Ensembl
Innerchr7:989832..997859hg38UCSC Ensembl
Outerchr7:989708..997962hg38UCSC Ensembl
chr7:1029468..1037495hg19UCSC Ensembl
Innerchr7:1029468..1037495hg19UCSC Ensembl
Outerchr7:1029344..1037598hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg388028
hg198028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611797
Supporting Variants
SamplesHG04080
Known GenesC7orf50
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12662083
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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