A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5382724



Internal ID8127773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:139025992..139027422hg38UCSC Ensembl
Outerchr4:139947146..139948576hg19UCSC Ensembl
Outerchr4:140166596..140168026hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg381431
hg191431
hg181431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2544225
Supporting Variants
SamplesNA18507
Known GenesCCRN4L
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)essv5382724
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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