A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2611276



Internal ID8674834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:63576342..63577915hg38UCSC Ensembl
Outerchr4:64442060..64443633hg19UCSC Ensembl
Outerchr4:64124655..64126228hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381574
hg191574
hg181574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5288065
SamplesNA18507
Known Genes
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)esv2611276
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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