A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2500895



Internal ID8217768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:77111944..77112909hg38UCSC Ensembl
Outerchr1:77577629..77578594hg19UCSC Ensembl
Outerchr1:77350217..77351182hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38319
hg19319
hg18319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5317534
SamplesNA18507
Known GenesPIGK
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)esv2500895
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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