A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12985093



Internal ID1686120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140882412..140888256hg38UCSC Ensembl
Innerchr7:140882412..140888256hg38UCSC Ensembl
Outerchr7:140882187..140888454hg38UCSC Ensembl
chr7:140582212..140588056hg19UCSC Ensembl
Innerchr7:140582212..140588056hg19UCSC Ensembl
Outerchr7:140581987..140588254hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg385845
hg195845
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615243
Supporting Variants
SamplesHG01556
Known GenesBRAF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12985093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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