A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12176595



Internal ID4424282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2102819..2228204hg38UCSC Ensembl
chr6:2103053..2228438hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38125386
hg19125386
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607901
Supporting Variants
SamplesHG03940
Known GenesGMDS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12176595
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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