A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2594391



Internal ID8657949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:2813485..2814669hg38UCSC Ensembl
Outerchr9:2813485..2814669hg19UCSC Ensembl
Outerchr9:2803485..2804669hg18UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38170
hg19170
hg18170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5298363
SamplesNA18507
Known GenesKIAA0020
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)esv2594391
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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