A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12349585



Internal ID2351401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52001480..52008227hg38UCSC Ensembl
Innerchr6:52001480..52008227hg38UCSC Ensembl
Outerchr6:52001189..52008498hg38UCSC Ensembl
chr6:51866278..51873025hg19UCSC Ensembl
Innerchr6:51866278..51873025hg19UCSC Ensembl
Outerchr6:51865987..51873296hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg386748
hg196748
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608990
Supporting Variants
SamplesHG04194
Known GenesPKHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12349585
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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