A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5254331



Internal ID8346066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:36973288..36974728hg38UCSC Ensembl
Outerchr13:37547425..37548865hg19UCSC Ensembl
Outerchr13:36445425..36446865hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381441
hg191441
hg181441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2454960
Supporting Variants
SamplesNA18507
Known GenesALG5
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)essv5254331
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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