A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12819304



Internal ID2821120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66636982..66673774hg38UCSC Ensembl
Innerchr7:66637132..66673624hg38UCSC Ensembl
Outerchr7:66636832..66673924hg38UCSC Ensembl
chr7:66101969..66138761hg19UCSC Ensembl
Innerchr7:66102119..66138611hg19UCSC Ensembl
Outerchr7:66101819..66138911hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3836793
hg1936793
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613516
Supporting Variants
SamplesHG01413
Known GenesKCTD7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12819304
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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