A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2619911



Internal ID8683469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155349140..155349489hg38UCSC Ensembl
Outerchr4:156270292..156270641hg19UCSC Ensembl
Outerchr4:156489742..156490091hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38811
hg19811
hg18811
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5189223
SamplesNA18507
Known GenesMAP9
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)esv2619911
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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