A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12750055



Internal ID562346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40137936..40177394hg38UCSC Ensembl
Innerchr7:40138086..40177244hg38UCSC Ensembl
Outerchr7:40137786..40177544hg38UCSC Ensembl
chr7:40177535..40216993hg19UCSC Ensembl
Innerchr7:40177685..40216843hg19UCSC Ensembl
Outerchr7:40177385..40217143hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3839459
hg1939459
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612923
Supporting Variants
SamplesHG00245
Known GenesC7orf10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12750055
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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