A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12347831



Internal ID2349647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51871311..51872007hg38UCSC Ensembl
Innerchr6:51871311..51872007hg38UCSC Ensembl
Outerchr6:51871311..51872007hg38UCSC Ensembl
chr6:51736109..51736805hg19UCSC Ensembl
Innerchr6:51736109..51736805hg19UCSC Ensembl
Outerchr6:51736109..51736805hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608987
Supporting Variants
SamplesHG03864
Known GenesPKHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12347831
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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