A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2492646



Internal ID8209518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:161435590..161436594hg38UCSC Ensembl
Outerchr6:161856622..161857626hg19UCSC Ensembl
Outerchr6:161776612..161777616hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38243
hg19243
hg18243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5232276
SamplesNA18507
Known GenesPARK2
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)esv2492646
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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