A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5240631



Internal ID8332366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:35760830..35763042hg38UCSC Ensembl
Outerchr13:36334967..36337179hg19UCSC Ensembl
Outerchr13:35232967..35235179hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382213
hg192213
hg182213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2650041
Supporting Variants
SamplesNA18507
Known GenesMIR548F5
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)essv5240631
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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