A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7735535



Internal ID13812875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140481894..140489290hg38UCSC Ensembl
Outerchr7:140481694..140489490hg38UCSC Ensembl
Innerchr7:140181694..140189090hg19UCSC Ensembl
Outerchr7:140181494..140189290hg19UCSC Ensembl
Innerchr7:139828163..139835559hg18UCSC Ensembl
Outerchr7:139827963..139835759hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg387797
hg197797
hg187797
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302720
Supporting Variants
SamplesNA18505
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7735535
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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