A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2448462



Internal ID8165334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51652115..51653633hg38UCSC Ensembl
Outerchr6:51516913..51518431hg19UCSC Ensembl
Outerchr6:51624872..51626390hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381519
hg191519
hg181519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5337948
SamplesNA18507
Known GenesPKHD1
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2448462
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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