A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002109



Internal ID6714244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51652554..51652879hg38UCSC Ensembl
chr6:51517352..51517677hg19UCSC Ensembl
chr6:51625311..51625636hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38326
hg19326
hg18326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584529
SamplesHuRef
Known GenesPKHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002109
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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