A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2512633



Internal ID8229505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150372135..150373286hg38UCSC Ensembl
Outerchr4:151293287..151294438hg19UCSC Ensembl
Outerchr4:151512737..151513888hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38179
hg19179
hg18179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5355678
SamplesNA18507
Known GenesLRBA
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)esv2512633
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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