A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3539724



Internal ID18394114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51652572..51652858hg38UCSC Ensembl
Outerchr6:51652496..51652913hg38UCSC Ensembl
Innerchr6:51517370..51517656hg19UCSC Ensembl
Outerchr6:51517294..51517711hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738471
Samples
Known GenesPKHD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3539724
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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