A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2561210



Internal ID1591750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42337579..42339158hg38UCSC Ensembl
Outerchr17:40489597..40491176hg19UCSC Ensembl
Outerchr17:37743123..37744702hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381580
hg191580
hg181580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5194275
SamplesNA18507
Known GenesSTAT3
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)esv2561210
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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