A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5345454



Internal ID8437189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109764914..109767054hg38UCSC Ensembl
Outerchr13:110417261..110419401hg19UCSC Ensembl
Outerchr13:109215262..109217402hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382141
hg192141
hg182141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2500078
Supporting Variants
SamplesNA18507
Known GenesIRS2
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)essv5345454
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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