A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2590950



Internal ID8654508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:43801612..43803238hg38UCSC Ensembl
Outerchr13:44375748..44377374hg19UCSC Ensembl
Outerchr13:43273748..43275374hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381627
hg191627
hg181627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5209780
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)esv2590950
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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