A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5168175



Internal ID7913224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73373517..73375330hg38UCSC Ensembl
Outerchr17:71369656..71371469hg19UCSC Ensembl
Outerchr17:68881251..68883064hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381814
hg191814
hg181814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2507814
Supporting Variants
SamplesNA18507
Known GenesSDK2
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)essv5168175
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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