A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612923



Internal ID6999822
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12750055, essv12750056
SamplesHG00245, NA18553
Known GenesC7orf10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612923
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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