A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12816593



Internal ID2818409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66079000..66102341hg38UCSC Ensembl
Innerchr7:66079150..66102191hg38UCSC Ensembl
Outerchr7:66078850..66102491hg38UCSC Ensembl
chr7:65543987..65567328hg19UCSC Ensembl
Innerchr7:65544137..65567178hg19UCSC Ensembl
Outerchr7:65543837..65567478hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3823342
hg1923342
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613497
Supporting Variants
SamplesHG02573
Known GenesASL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12816593
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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