A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5376677



Internal ID8468412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48959344..48961248hg38UCSC Ensembl
Outerchr17:47036706..47038610hg19UCSC Ensembl
Outerchr17:44391705..44393609hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381905
hg191905
hg181905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2651898
Supporting Variants
SamplesNA18507
Known GenesGIP
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)essv5376677
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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