A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12312815



Internal ID6309082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34356852..34364029hg38UCSC Ensembl
Innerchr6:34356852..34364029hg38UCSC Ensembl
Outerchr6:34356352..34364529hg38UCSC Ensembl
chr6:34324629..34331806hg19UCSC Ensembl
Innerchr6:34324629..34331806hg19UCSC Ensembl
Outerchr6:34324129..34332306hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg387178
hg197178
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608656
Supporting Variants
SamplesNA19909
Known GenesNUDT3, RPS10-NUDT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12312815
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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