A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12347138



Internal ID2348954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51825480..51827259hg38UCSC Ensembl
Innerchr6:51825526..51827213hg38UCSC Ensembl
Outerchr6:51825434..51827305hg38UCSC Ensembl
chr6:51690278..51692057hg19UCSC Ensembl
Innerchr6:51690324..51692011hg19UCSC Ensembl
Outerchr6:51690232..51692103hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381780
hg191780
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608986
Supporting Variants
SamplesHG01789
Known GenesPKHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12347138
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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