A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2498948



Internal ID8215820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:139955041..139956129hg38UCSC Ensembl
Outerchr3:139673883..139674971hg19UCSC Ensembl
Outerchr3:141156573..141157661hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38195
hg19195
hg18195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5305101
SamplesNA18507
Known GenesCLSTN2
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)esv2498948
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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