A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2544548



Internal ID8608106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41984930..41986549hg38UCSC Ensembl
Outerchr6:41952668..41954287hg19UCSC Ensembl
Outerchr6:42060646..42062265hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381620
hg191620
hg181620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5231391
SamplesNA18507
Known GenesCCND3
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)esv2544548
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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