A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2570744



Internal ID8634302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127891661..127892488hg38UCSC Ensembl
Outerchr2:128649235..128650062hg19UCSC Ensembl
Outerchr2:128365705..128366532hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38370
hg19370
hg18370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5346488
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)esv2570744
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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