A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2430788



Internal ID8147660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:41403695..41406461hg38UCSC Ensembl
Outerchr4:41405712..41408478hg19UCSC Ensembl
Outerchr4:41100469..41103235hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg382767
hg192767
hg182767
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5169229
SamplesNA18507
Known GenesLIMCH1
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)esv2430788
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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