A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5213118



Internal ID8304853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82974665..82977077hg38UCSC Ensembl
Outerchr17:80932541..80934953hg19UCSC Ensembl
Outerchr17:78525830..78528242hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382413
hg192413
hg182413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2512397
Supporting Variants
SamplesNA18507
Known GenesB3GNTL1
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)essv5213118
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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