A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2572362



Internal ID8289234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167929711..167931052hg38UCSC Ensembl
Outerchr1:167898949..167900290hg19UCSC Ensembl
Outerchr1:166165573..166166914hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381342
hg191342
hg181342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5318478
SamplesNA18507
Known GenesMPC2
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)esv2572362
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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