A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5301225



Internal ID8046274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51874148..51881447hg38UCSC Ensembl
Outerchr6:51738946..51746245hg19UCSC Ensembl
Outerchr6:51846905..51854204hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg387300
hg197300
hg187300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2587934
Supporting Variants
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)essv5301225
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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