A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5229163



Internal ID8320898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24648270..24649211hg38UCSC Ensembl
Outerchr6:24648498..24649439hg19UCSC Ensembl
Outerchr6:24756477..24757418hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38345
hg19345
hg18345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2562118
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)essv5229163
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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