A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5241744



Internal ID8333479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110312851..110314456hg38UCSC Ensembl
Outerchr13:110965198..110966803hg19UCSC Ensembl
Outerchr13:109763199..109764804hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381606
hg191606
hg181606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2615739
Supporting Variants
SamplesNA18507
Known GenesCOL4A2
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)essv5241744
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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