A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12386791



Internal ID2388607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61476557..61546621hg38UCSC Ensembl
chr6:62186462..62256526hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg3870065
hg1970065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609202
Supporting Variants
SamplesHG01801
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12386791
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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