A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5362165



Internal ID8453900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52892725..52893756hg38UCSC Ensembl
Outerchr13:53466860..53467891hg19UCSC Ensembl
Outerchr13:52364861..52365892hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38218
hg19218
hg18218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2598727
Supporting Variants
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)essv5362165
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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