A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5270400



Internal ID8015449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48043334..48044098hg38UCSC Ensembl
Outerchr19:48546591..48547355hg19UCSC Ensembl
Outerchr19:53238403..53239167hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38552
hg19552
hg18552
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2619667
Supporting Variants
SamplesNA18507
Known GenesCABP5
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)essv5270400
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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