A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12436989



Internal ID873885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:76756120..76787439hg38UCSC Ensembl
chr6:77465837..77497156hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3831320
hg1931320
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609617
Supporting Variants
SamplesHG00464
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12436989
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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