A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12612135



Internal ID2613951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160258136..160313281hg38UCSC Ensembl
Innerchr6:160258286..160313131hg38UCSC Ensembl
Outerchr6:160257986..160313431hg38UCSC Ensembl
chr6:160679168..160734313hg19UCSC Ensembl
Innerchr6:160679318..160734163hg19UCSC Ensembl
Outerchr6:160679018..160734463hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3855146
hg1955146
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611434
Supporting Variants
SamplesNA20813
Known GenesSLC22A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12612135
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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