A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12890675



Internal ID2892491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92631825..92637955hg38UCSC Ensembl
Innerchr7:92631857..92637924hg38UCSC Ensembl
Outerchr7:92631794..92637987hg38UCSC Ensembl
chr7:92261139..92267269hg19UCSC Ensembl
Innerchr7:92261171..92267238hg19UCSC Ensembl
Outerchr7:92261108..92267301hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg386131
hg196131
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614146
Supporting Variants
SamplesHG01890
Known GenesCDK6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12890675
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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