A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12495657



Internal ID839339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:104451435..104489873hg38UCSC Ensembl
chr6:104899310..104937748hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3838439
hg1938439
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610245
Supporting Variants
SamplesHG00436
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12495657
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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