A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12890680



Internal ID407963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92829726..92830486hg38UCSC Ensembl
Innerchr7:92829776..92830436hg38UCSC Ensembl
Outerchr7:92829676..92830536hg38UCSC Ensembl
chr7:92459040..92459800hg19UCSC Ensembl
Innerchr7:92459090..92459750hg19UCSC Ensembl
Outerchr7:92458990..92459850hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg38761
hg19761
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614149
Supporting Variants
SamplesHG00121
Known GenesCDK6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12890680
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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