A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5208019



Internal ID7953068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:48554103..48558672hg38UCSC Ensembl
Outerchr2:48781242..48785811hg19UCSC Ensembl
Outerchr2:48634746..48639315hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg384570
hg194570
hg184570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2631205
Supporting Variants
SamplesNA18507
Known GenesSTON1, STON1-GTF2A1L
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)essv5208019
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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